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DNAH11 c.9102+53_9102+70del
Variant ID: 7-21805228-TCACACACACACACACACA-T
NM_001277115.1(
DNAH11
):c.9102+53_9102+70del
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.
Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022
Variant appearance in text: DNAH11: 9102+53_9102+70del
PubMed Link:
36386804
Variant Present in the following documents:
Table1.xls, sheet 1
View BVdb publication page
Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11
Variant appearance in text: DNAH11: 9102+53_9102+70del
PubMed Link:
32046637
Variant Present in the following documents:
12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page