Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.R162insFs
Back to variants list

EXOSC9

NM_005033.3:p.R162insFs

Associated Papers

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Dabaj I et al.

Journal of Clinical Medicine, 2022

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.

Sakamoto M et al.

Journal of Human 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."