PICALM c.1731C>G ;(p.N577K)

Variant ID: 11-85692220-G-C

NM_007166.3(PICALM):c.1731C>G;(p.N577K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: PICALM: 1731C>G
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page