Varaico: Literature-Extracted Genetic Variants

Gene:GPSM2
Variant:p.G249fs
Back to variants list

GPSM2

NM_013296.5:p.G249fs

Associated Papers

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

Blauen A et al.

Journal of Child Neurology, 2021

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1

GPSM2 mutations in Chudley-McCullough syndrome.

Diaz-Horta O et al.

American Journal of Medical Genetics. Part A, 2012

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."