CFTR c.532G>T ;(p.G178*)

Variant ID: 7-117174372-G-T

NM_000492.3(CFTR):c.532G>T;(p.G178*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09

Variant appearance in text: CFTR: 532G>T; G178*
PubMed Link: 26436105
Variant Present in the following documents:
  • Main text
  • mgg30003-0396.pdf
View BVdb publication page