Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.P2929Q
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CFAP47

NM_001304548.2:p.P2929Q

Associated Papers

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Ge H et al.

Molecular Genetics & Genomic Medicine, 2024

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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."