Varaico: Literature-Extracted Genetic Variants

Gene:POLR2C
Variant:p.K152*
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POLR2C

NM_032940.3:p.K152*

Associated Papers

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report.

Bitarafan F et al.

European Journal of Clinical Investigation, 2023

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.

Moriwaki M et al.

Journal of the Endocrine Society, 2017

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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."