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ALK c.379C>T ;(p.L127=)
Variant ID: 2-30143147-G-A
NM_004304.4(
ALK
):c.379C>T;(p.L127=)
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:
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Italian Journal Of Pediatrics
Zhang, Ying Y; Nie, Yanyan Y; Mu, Yu Y; Zheng, Jie J; Xu, Xiaowei X; Zhang, Fang F; Shu, Jianbo J; Liu, Yang Y
Publication Date: 2022-05-12
Variant appearance in text: ALK: 379C>T
PubMed Link:
35550617
Variant Present in the following documents:
13052_2022_Article_1248.pdf
View BVdb publication page