Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMFBP1

Variant:p.C132fs

Back to variants list

PMFBP1

NM_031293.3:p.C132fs

hg38:chr16:72154231 GCA>N

Associated Papers

Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.

Deng TQ et al.

World Journal of Clinical Cases, 2022

36579083 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."