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DNAH11 c.73G>A ;(p.A25T)
Variant ID: 7-21582936-G-A
NM_001277115.1(
DNAH11
):c.73G>A;(p.A25T)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pulmonary Hypertension in a Patient With Kartagener's Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report.
Frontiers In Medicine
Dai, Hai-Long HL; Wang, Duolao D; Guang, Xue-Feng XF; Zhang, Wei-Hua WH
Publication Date: 2022
Variant appearance in text: DNAH11: 73G>A
PubMed Link:
35433722
Variant Present in the following documents:
Main text
fmed-09-860684.pdf
View BVdb publication page
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Journal Of Cellular And Molecular Medicine
Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H
Publication Date: 2021-09
Variant appearance in text: DNAH11: 73G>A
PubMed Link:
34405951
Variant Present in the following documents:
View BVdb publication page
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Plos One
Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021
Variant appearance in text: DNAH11: 73G>A; Ala25Thr
PubMed Link:
34133440
Variant Present in the following documents:
Main text
pone.0252786.pdf
View BVdb publication page
Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report.
Bmc Neurology
Zhang, Lili L; Feng, Xungang X; Zhang, Junhu J; Hao, Yanlei Y; Wang, Yuzhong Y
Publication Date: 2020-08-26
Variant appearance in text: DNAH11: Ala25Thr
PubMed Link:
32847546
Variant Present in the following documents:
Main text
12883_2020_Article_1895.pdf
View BVdb publication page