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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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