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JAG1 c.1976G>A ;(p.W659*)
Variant ID: 20-10626642-C-T
NM_000214.2(
JAG1
):c.1976G>A;(p.W659*)
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:
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course.
Jgh Open : An Open Access Journal Of Gastroenterology And Hepatology
Chiang, Che-Ming CM; Jeng, Yung-Ming YM; Ho, Ming-Chih MC; Lai, Ming-Wei MW; Li, Huei-Ying HY; Chen, Pei-Lung PL; Lee, Ni-Chung NC; Wu, Jia-Feng JF; Chiu, Yu-Chun YC; Liou, Bang-Yu BY; Ni, Yen-Hsuan YH; Hsu, Hong-Yuan HY; Chang, Mei-Hwei MH; Chen, Huey-Ling HL
Publication Date: 2022-12
Variant appearance in text: JAG1: 1976G>A; Trp659Ter
PubMed Link:
36514505
Variant Present in the following documents:
Main text
JGH3-6-839.pdf
View BVdb publication page