Varaico: Literature-Extracted Genetic Variants

Gene:POLR1B
Variant:p.R1003S
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POLR1B

NM_019014.6:p.R1003S

Associated Papers

Analysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.

Kawakami K et al.

Febs Open Bio, 2026

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.

Enomoto Y et al.

Molecular Syndromology, 2021

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Sanchez E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."