Varaico: Literature-Extracted Genetic Variants

Gene:DNAH6
Variant:p.R2569H
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DNAH6

NM_001370.2:p.R2569H

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes.

Shao ZM et al.

Asian Journal of Andrology, 2024

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Guzmán-Jiménez A et al.

Human Reproduction Open, 2024

39678461 (PubMed )
Supplement: hoae069_supplementary_data.zip › supplementary_tables.xlsx › _S13

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.

Tu C et al.

Scientific Reports, 2019

DNAH6 is a novel candidate gene associated with sperm head anomaly.

Li L et al.

Andrologia, 2018

Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.

Cousminer DL et al.

Plos One, 2015

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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."