CP c.1640A>C ;(p.K547T)

Variant ID: 3-148916227-T-G

NM_000096.3(CP):c.1640A>C;(p.K547T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

American Journal Of Human Genetics
Leslie, Elizabeth J EJ; Liu, Huan H; Carlson, Jenna C JC; Shaffer, John R JR; Feingold, Eleanor E; Wehby, George G; Laurie, Cecelia A CA; Jain, Deepti D; Laurie, Cathy C CC; Doheny, Kimberly F KF; McHenry, Toby T; Resick, Judith J; Sanchez, Carla C; Jacobs, Jennifer J; Emanuele, Beth B; Vieira, Alexandre R AR; Neiswanger, Katherine K; Standley, Jennifer J; Czeizel, Andrew E AE; Deleyiannis, Frederic F; Christensen, Kaare K; Munger, Ronald G RG; Lie, Rolv T RT; Wilcox, Allen A; Romitti, Paul A PA; Field, L Leigh LL; Padilla, Carmencita D CD; Cutiongco-de la Paz, Eva Maria C EM; Lidral, Andrew C AC; Valencia-Ramirez, Luz Consuelo LC; Lopez-Palacio, Ana Maria AM; Valencia, Dora Rivera DR; Arcos-Burgos, Mauricio M; Castilla, Eduardo E EE; Mereb, Juan C JC; Poletta, Fernando A FA; Orioli, Iêda M IM; Carvalho, Flavia M FM; Hecht, Jacqueline T JT; Blanton, Susan H SH; Buxó, Carmen J CJ; Butali, Azeez A; Mossey, Peter A PA; Adeyemo, Wasiu L WL; James, Olutayo O; Braimah, Ramat O RO; Aregbesola, Babatunde S BS; Eshete, Mekonen A MA; Deribew, Milliard M; Koruyucu, Mine M; Seymen, Figen F; Ma, Lian L; de Salamanca, Javier Enríquez JE; Weinberg, Seth M SM; Moreno, Lina L; Cornell, Robert A RA; Murray, Jeffrey C JC; Marazita, Mary L ML
Publication Date: 2016-04-07

Variant appearance in text: CP: 1640A>C; Lys547Thr
PubMed Link: 27018472
Variant Present in the following documents:
  • Main text
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