CFTR c.2758G>C ;(p.V920L)

Variant ID: 7-117243686-G-C

NM_000492.3(CFTR):c.2758G>C;(p.V920L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: V920L
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey

Turkish Journal Of Medical Sciences
Başaran, Abdurrahman Erdem AE; Başaran, Ayşen A; Kocacik, Dilara Fatma DF; Alper, Özgül Ö; Acican, Deniz D; Bingöl, Ayşen A
Publication Date: 2019-12-16

Variant appearance in text: CFTR: V920L
PubMed Link: 31655510
Variant Present in the following documents:
  • turkjmedsci-49-1655.pdf
View BVdb publication page