Associated Papers
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Orbach R et al.
Annals of Clinical and Translational Neurology, 2025
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
Lynn AM et al.
Annals of Clinical Biochemistry, 2012
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
Visapää I et al.
American Journal of Human Genetics, 2002
Select a paper to view details