Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL1
Variant:p.R230*
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PIWIL1

NM_004764.5:p.R230*

Associated Papers

A homozygous PIWIL1 frameshift variant triggers azoospermia and reveals a strong selective constraint on germline genome integrity.

Balde-Camara A et al.

Journal of Assisted Reproduction and Genetics, 2026

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

Stallmeyer B et al.

Nature Communications, 2024

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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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."