Associated Papers
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Zahir FR et al.
Bmc Genomics, 2017
28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_42
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