CFTR c.1546_1548delinsTGG ;(p.R516W)

Variant ID: 7-117199671-AGA-TGG

NM_000492.3(CFTR):c.1546_1548delinsTGG;(p.R516W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Small molecules restore the function of mutant CLC5 associated with Dent disease.

Journal Of Cellular And Molecular Medicine
Liu, Jingshu J; Sadeh, Tal T TT; Lippiat, Jonathan D JD; Thakker, Rajesh V RV; Black, Graeme C GC; Manson, Forbes F
Publication Date: 2021-01

Variant appearance in text: CFTR: R516W
PubMed Link: 33200471
Variant Present in the following documents:
  • Main text
  • JCMM-25-1319.pdf
View BVdb publication page