Associated Papers
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G et al.
Genes, 2023
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
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