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
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E et al.
Human Molecular Genetics, 2019
31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table
Select a paper to view details