Varaico: Literature-Extracted Genetic Variants

Gene:RBM10
Variant:p.T322I
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RBM10

NM_001204468.2:p.T322I

Associated Papers

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.

Owczarek-Lipska M et al.

Genes, 2022

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Kumps C et al.

Clinical Genetics, 2021

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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."