Varaico: Literature-Extracted Genetic Variants

Gene:POLR3B
Variant:p.R121*
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POLR3B

NM_018082.6:p.R121*

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.

Liu M et al.

Annals of Clinical and Translational Neurology, 2023

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
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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."