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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3B

Variant:p.T462M

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POLR3B

NM_018082.6:p.T462M

hg38:chr12:106430394 C>T

Associated Papers

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

Krenn M et al.

Journal of Neuromuscular Diseases, 2025

40910438 (PubMed )

Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1

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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."