Bibliome.ai browser hg19
Search
About
Stats
FAQ
DNAH11 c.8561T>G ;(p.V2854G)
Variant ID: 7-21788248-T-G
NM_001277115.1(
DNAH11
):c.8561T>G;(p.V2854G)
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:
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017
Variant appearance in text: DNAH11: 8561T>G
PubMed Link:
28590501
Variant Present in the following documents:
1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page