Varaico: Literature-Extracted Genetic Variants

Gene:GPSM2
Variant:p.R498*
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GPSM2

NM_013296.5:p.R498*

Associated Papers

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Ben-Mahmoud A et al.

Frontiers in Molecular Neuroscience, 2022

36277487 (PubMed )
Supplement: Table_2.docx

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

Hamzeh AR et al.

European Journal of Medical Genetics, 2016

The GPSM2/LGN GoLoco motifs are essential for hearing.

Bhonker Y et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016

GPSM2 mutations in Chudley-McCullough syndrome.

Diaz-Horta O et al.

American Journal of Medical Genetics. Part A, 2012

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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."