Varaico: Literature-Extracted Genetic Variants

Gene:DNAH3
Variant:p.G1613*
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DNAH3

NM_001347886.2:p.G1613*

Associated Papers

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.

Wang X et al.

Elife, 2024

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
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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."