PC c.545A>G ;(p.E182G)

Variant ID: 11-66638611-T-C

NM_001040716.1(PC):c.545A>G;(p.E182G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.

Orphanet Journal Of Rare Diseases
Yu, Meng M; Zhu, Ying Y; Lu, Yuanyuan Y; Lv, He H; Zhang, Wei W; Yuan, Yun Y; Wang, Zhaoxia Z
Publication Date: 2020-12-09

Variant appearance in text: PC: 545A>G
PubMed Link: 33298082
Variant Present in the following documents:
  • 13023_2020_Article_1626.pdf
View BVdb publication page