Associated Papers
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.
Fan Y et al.
Frontiers in Genetics, 2022
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
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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
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