Varaico: Literature-Extracted Genetic Variants

Gene:GOSR2
Variant:p.L68Splc
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GOSR2

NM_004287.5:p.L68Splc

Associated Papers

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

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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."