Associated Papers
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.
Hao Y et al.
Hgg Advances, 2026
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G et al.
Genes, 2023
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Mauri E et al.
Journal of the Neurological Sciences, 2021
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