Associated Papers
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Polet SS et al.
Journal of Inherited Metabolic Disease, 2025
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Aburayyan A et al.
Human Molecular Genetics, 2023
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