Varaico: Literature-Extracted Genetic Variants

Gene:DNAH2
Variant:p.T3600I
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DNAH2

NM_020877.5:p.T3600I

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

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.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

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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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."