Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646813 (PubMed )
Supplement: media-3.xlsx › Table_S4
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Orbach R et al.
Annals of Clinical and Translational Neurology, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
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