Associated Papers
Identifying functional roles and pathways of shared mutations in canine solid tumors by whole-genome sequencing.
Jeon Y et al.
Plos One, 2025
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
Pepe G et al.
Neuromuscular Disorders : Nmd, 1999
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