Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.R362S
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POU3F3

NM_006236.3:p.R362S

Associated Papers

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Coursimault J et al.

Human Mutation, 2022

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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."