Varaico: Literature-Extracted Genetic Variants

Gene:CFAP65
Variant:p.R762*
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CFAP65

NM_194302.4:p.R762*

Associated Papers

Ocular Manifestations and Genetic Spectrum of Xeroderma Pigmentosum: Insights From an Indian Cohort in a Global Context.

Verma A et al.

Cornea, 2026

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

The genetic architecture of morphological abnormalities of the sperm tail.

Touré A et al.

Human Genetics, 2021

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.

Wang W et al.

Journal of Medical Genetics, 2019

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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."