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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP57

Variant:p.R619H

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CFAP57

NM_001378189.1:p.R619H

hg38:chr1:43209843 G>A

Associated Papers

Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.

Chen Y et al.

Human Genomics, 2025

41466333 (PubMed )

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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."