[1]
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NUCLEOTIDE SEQUENCE [MRNA].
Grossman A.,
Mittrucker H.W.,
Antonio L.,
Ozato K.,
Mak T.W.;
Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases.
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G.,
Barlow K.F.,
McLay K.E.,
Kaul R.,
Swarbreck D.,
Dunham A.,
Scott C.E.,
Howe K.L.,
Woodfine K.,
Spencer C.C.A.,
Jones M.C.,
Gillson C.,
Searle S.,
Zhou Y.,
Kokocinski F.,
McDonald L.,
Evans R.,
Phillips K.,
Atkinson A., ![]()
Cooper R.,
Jones C.,
Hall R.E.,
Andrews T.D.,
Lloyd C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Anderson F.,
Andrew R.W.,
Ashwell R.I.S.,
Aubin K.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Beasley H.,
Bethel G.,
Bird C.P.,
Bray-Allen S.,
Brown J.Y.,
Brown A.J.,
Buckley D.,
Burton J.,
Bye J.,
Carder C.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.,
Cobley V.,
Collier R.E.,
Corby N.,
Coville G.J.,
Davies J.,
Deadman R.,
Dunn M.,
Earthrowl M.,
Ellington A.G.,
Errington H.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gay L.,
Ghori M.R.J.,
Gibson R.,
Gilby L.M.,
Gillett W.,
Glithero R.J.,
Grafham D.V.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Hammond S.,
Harrison E.S.I.,
Hart E.,
Haugen E.,
Heath P.D.,
Holmes S.,
Holt K.,
Howden P.J.,
Hunt A.R.,
Hunt S.E.,
Hunter G.,
Isherwood J.,
James R.,
Johnson C.,
Johnson D.,
Joy A.,
Kay M.,
Kershaw J.K.,
Kibukawa M.,
Kimberley A.M.,
King A.,
Knights A.J.,
Lad H.,
Laird G.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
Lush M.J.,
Lyne R.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
Matthews N.S.W.,
McLaren S.,
Milne S.,
Mistry S.,
Moore M.J.F.,
Nickerson T.,
O'Dell C.N.,
Oliver K.,
Palmeiri A.,
Palmer S.A.,
Parker A.,
Patel D.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phelps K.,
Phillimore B.J.,
Plumb R.,
Rajan J.,
Raymond C.,
Rouse G.,
Saenphimmachak C.,
Sehra H.K.,
Sheridan E.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.,
Steward C.,
Subramanian S.,
Sycamore N.,
Tracey A.,
Tromans A.,
Van Helmond Z.,
Wall M.,
Wallis J.M.,
White S.,
Whitehead S.L.,
Wilkinson J.E.,
Willey D.L.,
Williams H.,
Wilming L.,
Wray P.W.,
Wu Z.,
Coulson A.,
Vaudin M.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Wooster R.,
Dunham I.,
Carter N.P.,
McVean G.,
Ross M.T.,
Harrow J.,
Olson M.V.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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VARIANTS VWS VAL-2; ALA-18; MET-18; ALA-39; GLY-61; ARG-70; SER-76; HIS-88; GLY-90; HIS-98; GLN-250; ARG-273; 290-PHE--ASP-296 DELINS LEU; PRO-294; ILE-297; GLU-320; MET-321; GLU-325; PRO-345; PHE-347; SER-369; TRP-374 AND GLU-388, VARIANTS PPS GLY-60; THR-66; LYS-82; CYS-84; HIS-84; GLU-89 AND ASN-430, AND VARIANT ILE-274.
DOI=10.1038/ng985; PubMed=12219090 [NCBI, ExPASy, EBI, Israel, Japan]
Kondo S.,
Schutte B.C.,
Richardson R.J.,
Bjork B.C.,
Knight A.S.,
Watanabe Y.,
Howard E.,
de Lima R.L.L.,
Daack-Hirsch S.,
Sander A.,
McDonald-McGinn D.M.,
Zackai E.H.,
Lammer E.J.,
Aylsworth A.S.,
Ardinger H.H.,
Lidral A.C.,
Pober B.R.,
Moreno L.,
Arcos-Burgos M., ![]()
Valencia C.,
Houdayer C.,
Bahuau M.,
Moretti-Ferreira D.,
Richieri-Costa A.,
Dixon M.J.,
Murray J.C.;
"Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.";
Nat. Genet. 32:285-289(2002).
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[5]
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VARIANTS VWS VAL-2; CYS-6 AND TRP-400.
DOI=10.1007/s00439-003-0989-2; PubMed=12920575 [NCBI, ExPASy, EBI, Israel, Japan]
Wang X.,
Liu J.,
Zhang H.,
Xiao M.,
Li J.,
Yang C.,
Lin X.,
Wu Z.,
Hu L.,
Kong X.;
"Novel mutations in the IRF6 gene for Van der Woude syndrome.";
Hum. Genet. 113:382-386(2003).
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[6]
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VARIANTS VWS VAL-16; ILE-64; ALA-100 AND PRO-251, AND VARIANT VWS/PPS PRO-22.
PubMed=14640121 [NCBI, ExPASy, EBI, Israel, Japan]
Ghassibe M.,
Revencu N.,
Bayet B.,
Gillerot Y.,
Vanwijck R.,
Verellen-Dumoulin C.,
Vikkula M.;
"Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.";
Hum. Genet. 113:558-558(2003).
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[7]
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VARIANTS VWS GLN-45 AND SER-396.
DOI=10.1007/s10038-003-0089-0; PubMed=14618417 [NCBI, ExPASy, EBI, Israel, Japan]
Kayano S.,
Kure S.,
Suzuki Y.,
Kanno K.,
Aoki Y.,
Kondo S.,
Schutte B.C.,
Murray J.C.,
Yamada A.,
Matsubara Y.;
"Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.";
J. Hum. Genet. 48:622-628(2003).
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[8]
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VARIANT VWS GLY-84.
PubMed=15300989 [NCBI, ExPASy, EBI, Israel, Japan]
Item C.B.,
Turhani D.,
Thurnher D.,
Sinko K.,
Yerit K.,
Galev K.,
Wittwer G.,
Lanre Adeyemo W.,
Klemens F.,
Ewers R.,
Watzinger F.;
"Gene symbol: IRF6. Disease: Van der Woude syndrome.";
Hum. Genet. 115:175-175(2004).
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[9]
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ASSOCIATION OF VARIANT ILE-274 WITH OFC6.
DOI=10.1056/NEJMoa032909; PubMed=15317890 [NCBI, ExPASy, EBI, Israel, Japan]
Zucchero T.M.,
Cooper M.E.,
Maher B.S.,
Daack-Hirsch S.,
Nepomuceno B.,
Ribeiro L.,
Caprau D.,
Christensen K.,
Suzuki Y.,
Machida J.,
Natsume N.,
Yoshiura K.,
Vieira A.R.,
Orioli I.M.,
Castilla E.E.,
Moreno L.,
Arcos-Burgos M.,
Lidral A.C.,
Field L.L., ![]()
Liu Y.-E.,
Ray A.,
Goldstein T.H.,
Schultz R.E.,
Shi M.,
Johnson M.K.,
Kondo S.,
Schutte B.C.,
Marazita M.L.,
Murray J.C.;
"Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.";
N. Engl. J. Med. 351:769-780(2004).
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[10]
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VARIANT VWS VAL-349.
PubMed=17122170 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuzawa N.,
Shimozato K.,
Natsume N.,
Niikawa N.,
Yoshiura K.;
"A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.";
J. Dent. Res. 85:1143-1146(2006).
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