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CFTR c.1923C>A ;(p.S641R)
Variant ID: 7-117232144-C-A
NM_000492.3(
CFTR
):c.1923C>A;(p.S641R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21
Variant appearance in text: CFTR: 1923_1931del9insA; S641fs
PubMed Link:
35313924
Variant Present in the following documents:
13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page