CFTR c.3907_3908delinsCT ;(p.N1303L)

Variant ID: 7-117292929-AA-CT

NM_000492.3(CFTR):c.3907_3908delinsCT;(p.N1303L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg
Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,
Publication Date: 2013-04

Variant appearance in text: CFTR: N1303L
PubMed Link: 22892530
Variant Present in the following documents:
  • Main text
View BVdb publication page