ATM c.6503C>G ;(p.S2168W)

Variant ID: 11-108192078-C-G

NM_000051.3(ATM):c.6503C>G;(p.S2168W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Translational Neurodegeneration
Cheng, Hao-Ling HL; Shao, Ya-Ru YR; Dong, Yi Y; Dong, Hai-Lin HL; Yang, Lu L; Ma, Yin Y; Shen, Ying Y; Wu, Zhi-Ying ZY
Publication Date: 2021-10-18

Variant appearance in text: rs200431631
PubMed Link: 34663476
Variant Present in the following documents:
  • Main text
View BVdb publication page