Varaico: Literature-Extracted Genetic Variants

Gene:PMFBP1
Variant:p.Y109*
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PMFBP1

NM_031293.3:p.Y109*

Associated Papers

Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection.

Liu G et al.

Clinical Genetics, 2021

Biallelic mutations in PMFBP1 cause acephalic spermatozoa.

Sha YW et al.

Clinical Genetics, 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."