CFTR c.3730G>C ;(p.G1244R)

Variant ID: 7-117282504-G-C

NM_000492.3(CFTR):c.3730G>C;(p.G1244R)

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: Gly1244Arg
PubMed Link: 32863993
Variant Present in the following documents:
  • Main text
  • AMS-16-5-32592.pdf
View BVdb publication page



Exogenous and endogenous determinants of vitamin K status in cystic fibrosis.

Scientific Reports
Krzyżanowska, Patrycja P; Pogorzelski, Andrzej A; Skorupa, Wojciech W; Moczko, Jerzy J; Grebowiec, Philip P; Walkowiak, Jarosław J
Publication Date: 2015-07-10

Variant appearance in text: CFTR: G1244R
PubMed Link: 26160248
Variant Present in the following documents:
  • Main text
  • srep12000.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: 3730G>C; G1244R
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
  • pone.0089094.pdf
View BVdb publication page