Varaico: Literature-Extracted Genetic Variants

Gene:DNAH1
Variant:p.D1293N
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DNAH1

NM_015512.5:p.D1293N

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder.

Yuan L et al.

Frontiers in Molecular Biosciences, 2023

Novel DNAH1 Mutation Loci Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Literature Review.

Zhuang BJ et al.

The World Journal of Men's Health, 2022

35118838 (PubMed )
Supplement: wjmh-40-551-s002.xls › Sperm_quality

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

De Jesús-Rojas W et al.

Diagnostics (basel, Switzerland), 2022

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

Amiri-Yekta A et al.

Human Reproduction (oxford, England), 2016

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Ben Khelifa M et al.

American Journal of Human Genetics, 2014

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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."