Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL1
Variant:p.R527K
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PIWIL1

NM_004764.5:p.R527K

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

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Liu X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese.

Zhu XB et al.

Journal of Assisted Reproduction and Genetics, 2016

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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."