Varaico: Literature-Extracted Genetic Variants

Gene:DRC4
Variant:p.R183*
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DRC4

NM_001481.3:p.R183*

Associated Papers

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.

Kherraf ZE et al.

Clinical Genetics, 2024

A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

Artesani MC et al.

Frontiers in Pediatrics, 2024

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L et al.

Human Mutation, 2016

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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."