Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
34867752 (PubMed )
Supplement: Table_1.XLSX › list
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C et al.
Human Mutation, 2019
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
Oliveira J et al.
Journal of Human Genetics, 2016
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
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