DNAH11 c.11804C>G ;(p.P3935R)

Variant ID: 7-21907590-C-G

NM_001277115.1(DNAH11):c.11804C>G;(p.P3935R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Frontiers In Pediatrics
Luo, Fang-Mei FM; Fan, Liang-Liang LL; Sheng, Yue Y; Dong, Yi Y; Liu, Lv L
Publication Date: 2021

Variant appearance in text: rs72658814
PubMed Link: 34222148
Variant Present in the following documents:
  • Main text
View BVdb publication page