CFTR c.80G>T ;(p.G27V)

Variant ID: 7-117144333-G-T

NM_000492.3(CFTR):c.80G>T;(p.G27V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Circulating brain-derived neurotrophic factor, leptin, neuropeptide Y, and their clinical correlates in cystic fibrosis: a cross-sectional study.

Archives Of Medical Science : Ams
Nowak, Jan K JK; Szczepanik, Mariusz M; Trypuć, Magdalena M; Pogorzelski, Andrzej A; Bobkowski, Waldemar W; Grytczuk, Marcin M; Minarowska, Alina A; Wójciak, Rafał R; Walkowiak, Jaroslaw J
Publication Date: 2020

Variant appearance in text: CFTR: Gly27Val
PubMed Link: 32863993
Variant Present in the following documents:
  • Main text
  • AMS-16-5-32592.pdf
View BVdb publication page



CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 80G>T; G27V
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
  • pone.0089094.pdf
View BVdb publication page