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.




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