Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.A2A
Back to variants list

RBM8A

NM_005105.5:p.A2A

Associated Papers

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

Morgan A et al.

Human Mutation, 2021

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Boussion S et al.

Human Mutation, 2020

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."