Varaico: Literature-Extracted Genetic Variants

Gene:DNAH17
Variant:p.R4432C
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DNAH17

NM_173628.4:p.R4432C

Associated Papers

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.

Song B et al.

Journal of Assisted Reproduction and Genetics, 2023

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Identification of DNAH17 Variants in Han-Chinese Patients With Left-Right Asymmetry Disorders.

Yu X et al.

Frontiers in Genetics, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.

Song B et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

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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."