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CFTR c.444T>G ;(p.I148M)
Variant ID: 7-117171123-T-G
NM_000492.3(
CFTR
):c.444T>G;(p.I148M)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SnRNA-Seq of Pancreas Revealed the Dysfunction of Endocrine and Exocrine Cells in Transgenic Pigs with Prediabetes.
International Journal Of Molecular Sciences
Peng, Huanqi H; Zhang, Kaiyi K; Miao, Jiakun J; Yang, Yu Y; Xu, Shuang S; Wu, Tianwen T; Tao, Cong C; Wang, Yanfang Y; Yang, Shulin S
Publication Date: 2023-04-22
Variant appearance in text: CFTR: I148M
PubMed Link:
37175407
Variant Present in the following documents:
Main text
ijms-24-07701.pdf
View BVdb publication page
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10
Variant appearance in text: CFTR: Ile148Met
PubMed Link:
23820649
Variant Present in the following documents:
Main text
439_2013_Article_1331.pdf
View BVdb publication page