Varaico: Literature-Extracted Genetic Variants

Gene:RBM7
Variant:p.P79R
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RBM7

NM_001286045.2:p.P79R

Associated Papers

C-terminal determinants for RNA binding motif 7 protein stability and RNA recognition.

Sobeh AM et al.

Biophysical Chemistry, 2023

Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.

Singh P et al.

Journal of Molecular Biology, 2018

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT et al.

American Journal of Human Genetics, 2018

The RNA exosome and RNA exosome-linked disease.

Morton DJ et al.

Rna (new York, N.y.), 2018

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M et al.

Human Molecular Genetics, 2016

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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."