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
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.
Sedghi M et al.
Brain Communications, 2019
32954258 (PubMed )
Supplement: fcz011_supplementary_data.zip › Supplementary_Table_1.pdf
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.
Zahid M et al.
Plos One, 2018
29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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