Associated Papers
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S et al.
Translational Pediatrics, 2025
Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.
Dalin MG et al.
Nature Communications, 2017
29084941 (PubMed )
Supplement: 41467_2017_1178_MOESM4_ESM.xlsx › Somatic_mutations
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.
Baranello G et al.
Neuromuscular Disorders : Nmd, 2015
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