Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.A165A
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DRC1

NM_145038.5:p.A165A

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.

Keicho N et al.

Molecular Genetics & Genomic Medicine, 2020

31701675 (PubMed )
Supplement: MGG3-8-e1033-s002.xlsx › STable3
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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."