Varaico: Literature-Extracted Genetic Variants

Gene:DNAH1
Variant:p.R2356W
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DNAH1

NM_015512.5:p.R2356W

Associated Papers

Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.

Long S et al.

Andrology, 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

Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Malcher A et al.

Andrology, 2022

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.

Yu W et al.

Journal of Assisted Reproduction and Genetics, 2021

Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.

Yang X et al.

Medicine, 2018

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.

Sha Y et al.

Fertility and Sterility, 2017

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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."