Associated Papers
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2024
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Mroczek M et al.
Neuromuscular Disorders : Nmd, 2020
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