Clare V. Logan
0000-0003-4323-1602
University of Edinburgh
3 papers found
Refreshing results…
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Mutations in TJP2 cause progressive cholestatic liver disease
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
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