CFTR c.998T>C ;(p.L333P)

Variant ID: 7-117180282-T-C

NM_000492.3(CFTR):c.998T>C;(p.L333P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

Nature Genetics
Todd, John A JA; Walker, Neil M NM; Cooper, Jason D JD; Smyth, Deborah J DJ; Downes, Kate K; Plagnol, Vincent V; Bailey, Rebecca R; Nejentsev, Sergey S; Field, Sarah F SF; Payne, Felicity F; Lowe, Christopher E CE; Szeszko, Jeffrey S JS; Hafler, Jason P JP; Zeitels, Lauren L; Yang, Jennie H M JH; Vella, Adrian A; Nutland, Sarah S; Stevens, Helen E HE; Schuilenburg, Helen H; Coleman, Gillian G; Maisuria, Meeta M; Meadows, William W; Smink, Luc J LJ; Healy, Barry B; Burren, Oliver S OS; Lam, Alex A C AA; Ovington, Nigel R NR; Allen, James J; Adlem, Ellen E; Leung, Hin-Tak HT; Wallace, Chris C; Howson, Joanna M M JM; Guja, Cristian C; Ionescu-Tîrgovişte, Constantin C; , ; Simmonds, Matthew J MJ; Heward, Joanne M JM; Gough, Stephen C L SC; , ; Dunger, David B DB; Wicker, Linda S LS; Clayton, David G DG
Publication Date: 2007-07

Variant appearance in text: CFTR: L333P
PubMed Link: 17554260
Variant Present in the following documents:
  • Main text
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