Varaico: Literature-Extracted Genetic Variants

Gene:DNAH17
Variant:p.S2286L
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DNAH17

NM_173628.4:p.S2286L

Associated Papers

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.

Song B et al.

Journal of Assisted Reproduction and Genetics, 2023

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report.

Kurata K et al.

American Journal of Ophthalmology Case Reports, 2022

35112026 (PubMed )
Supplement: mmc1.xlsx › supple

Identification of DNAH17 Variants in Han-Chinese Patients With Left-Right Asymmetry Disorders.

Yu X et al.

Frontiers in Genetics, 2022

DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.

Sha Y et al.

Annals of Human Genetics, 2020

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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."