CFTR c.2978A>C ;(p.D993A)

Variant ID: 7-117246797-A-C

NM_000492.3(CFTR):c.2978A>C;(p.D993A)

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: 2978A>C; D993A
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01

Variant appearance in text: CFTR: D993A
PubMed Link: 31164398
Variant Present in the following documents:
  • Main text
  • JGP_201912360.pdf
View BVdb publication page