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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMFBP1

Variant:p.R881*

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PMFBP1

NM_031293.3:p.R881*

hg38:chr16:72123598 G>A

Associated Papers

A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.

Liu C et al.

Biomedicines, 2025

41462896 (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."