Reactome | Scarano, G

Schema > Person > Entries

created	[InstanceEdit:9861650] Stephan, Ralf, 2024-02-21
dbId	9861689
displayName	Scarano, G
firstname	Gioacchino
initial	G
publications	[LiteratureReference:9959723] Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study [LiteratureReference:9861705] NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases [LiteratureReference:9949915] Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
schemaClass	Person
surname	Scarano

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