CFTR c.4201G>T ;(p.E1401*)

Variant ID: 7-117305577-G-T

NM_000492.3(CFTR):c.4201G>T;(p.E1401*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics
Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR
Publication Date: 2018-11

Variant appearance in text: CFTR: E1401X
PubMed Link: 30444886
Variant Present in the following documents:
  • Main text
  • pgen.1007723.pdf
View BVdb publication page