Varaico: Literature-Extracted Genetic Variants

Gene:RBM10
Variant:p.G53delFs
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RBM10

NM_005676.5:p.G53delFs

Associated Papers

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

Kumps C et al.

Clinical Genetics, 2021

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Johnston JJ et al.

American Journal of Medical Genetics. Part A, 2014

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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."