Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN4
Variant:p.R69*
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SEPTIN4

NM_001368771.2:p.R69*

Associated Papers

Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.

Wang G et al.

Human Mutation, 2022

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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."