Varaico: Literature-Extracted Genetic Variants

Gene:CTRB1
Variant:p.R248H
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CTRB1

NM_001906.6:p.R248H

Associated Papers

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN et al.

Genome Medicine, 2013

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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."