Varaico: Literature-Extracted Genetic Variants

Gene:DNAH1
Variant:p.P3909fs
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DNAH1

NM_015512.5:p.P3909fs

Associated Papers

An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.

Zhou W et al.

Journal of Internal Medicine, 2025

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Successful Live Birth Following Natural Cycle Oocyte Retrieval in a Woman with Primary Infertility and Atypical Primary Ovarian Insufficiency with a DNAH1 Gene Deletion Mutation.

Liu M et al.

Genetic Testing and Molecular Biomarkers, 2021

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

Yang X et al.

Medicine, 2018

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Auguste Y et al.

American Journal of Human Genetics, 2018

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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."