Varaico: Literature-Extracted Genetic Variants

Gene:RBM10
Variant:p.S138fs
Back to variants list

RBM10

NM_001204468.2:p.S138fs

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."