Varaico: Literature-Extracted Genetic Variants

Gene:DNAH2
Variant:p.V1755V
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DNAH2

NM_020877.5:p.V1755V

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice.

Hwang JY et al.

Frontiers in Cell and Developmental Biology, 2021

33968937 (PubMed )
Supplement: Table_3.XLSX › Sheet1

XAF1 as a modifier of p53 function and cancer susceptibility.

Pinto EM et al.

Science Advances, 2020

32637605 (PubMed )
Supplement: aba3231_Table_S1.xlsx › Table_S1

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."