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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3B

Variant:p.R433C

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POLR3B

NM_018082.6:p.R433C

hg38:chr12:106430306 C>T

Associated Papers

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.

Colona VL et al.

Brain Sciences, 2023

38002527 (PubMed )

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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."