Varaico: Literature-Extracted Genetic Variants

Gene:POLR3H
Variant:p.D50G
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POLR3H

NM_001018050.4:p.D50G

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

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

Jiao SY et al.

Human Reproduction Update, 2021

RNA Polymerase III Subunit Mutations in Genetic Diseases.

Lata E et al.

Frontiers in Molecular Biosciences, 2021

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

França MM et al.

Journal of the Endocrine Society, 2020

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

Franca MM et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."