Varaico: Literature-Extracted Genetic Variants

Gene:CFAP52
Variant:p.G435fs
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CFAP52

NM_145054.5:p.G435fs

Associated Papers

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

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

Dougherty GW et al.

Nature Communications, 2020

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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."