Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.E1221fs
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CFAP43

NM_025145.7:p.E1221fs

Associated Papers

Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.

Li L et al.

Andrologia, 2020

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).

Sha YW et al.

Reproductive Sciences (thousand Oaks, Calif.), 2019

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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."