Varaico: Literature-Extracted Genetic Variants

Gene:PMFBP1
Variant:p.R909*
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PMFBP1

NM_031293.3:p.R909*

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

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."