Associated Papers
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Hentrich L et al.
Genes, 2023
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
Stemmerik MG et al.
Human Mutation, 2021
APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.
Roper N et al.
Cell Reports, 2019
30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA004
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