Varaico: Literature-Extracted Genetic Variants

Gene:PMFBP1
Variant:p.Q802*
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PMFBP1

NM_031293.3:p.Q802*

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.

Lu M et al.

Journal of Assisted Reproduction and Genetics, 2021

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review.

Mazaheri Moghaddam M et al.

Journal of Assisted Reproduction and Genetics, 2021

Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.

Zhu F et al.

American Journal of Human Genetics, 2018

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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."