Varaico: Literature-Extracted Genetic Variants

Gene:DNAH1
Variant:p.K1279R
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DNAH1

NM_015512.5:p.K1279R

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

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

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

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Li Y et al.

Bmc Pediatrics, 2022

35804324 (PubMed )
Supplement: 12887_2022_3469_MOESM2_ESM.xlsx › __38_________2_

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

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 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."