Associated Papers
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Michelson M et al.
Clinical Genetics, 2024
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Kubánek M et al.
Journal of Clinical Medicine, 2020
32235386 (PubMed )
Supplement: jcm-09-00937-s001.pdf
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