Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.Q566*
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CFAP58

NM_001008723.2:p.Q566*

Associated Papers

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

Zhou Y et al.

Genes, 2024

A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

Tan L et al.

Molecular Genetics & Genomic Medicine, 2021

33369188 (PubMed )
Supplement: MGG3-9-e1582-s001.xlsx › Sheet2
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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."