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
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M et al.
Nature Communications, 2019
31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1
Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Kim JW et al.
Clinical Genetics, 2019
30506946 (PubMed )
Supplement: CGE-95-375-s001.pdf
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
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