Associated Papers
Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.
Xiao R et al.
Iscience, 2024
38414864 (PubMed )
Supplement: mmc1.pdf
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
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