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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP52

Variant:p.V271I

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CFAP52

NM_001080556.2:p.V271I

hg38:chr17:9612469 G>A

Associated Papers

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Dougherty GW et al.

Nature Communications, 2020

33139725 (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."