Varaico: Literature-Extracted Genetic Variants

Gene:POLR1C
Variant:p.S312P
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POLR1C

NM_203290.4:p.S312P

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc2.xlsx › Lut_Publication

Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.

Belkevich AE et al.

Molecular and Cellular Biology, 2023

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.

Naseer MI et al.

Frontiers in Pediatrics, 2022

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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."