Varaico: Literature-Extracted Genetic Variants

Gene:POLR1C
Variant:p.G31fs
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POLR1C

NM_203290.4:p.G31fs

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Ghesh L et al.

American Journal of Medical Genetics. Part A, 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."