Varaico: Literature-Extracted Genetic Variants

Gene:RBM10
Variant:p.K54fs
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RBM10

NM_005676.5:p.K54fs

Associated Papers

Further evidence for distinct traits associated with RBM10 missense variants.

Poulton C et al.

Clinical Genetics, 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

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Imagawa E et al.

Clinical 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."