Reactome | Colombo, JP

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created	[InstanceEdit:9955091] Rothfels, Karen, 2025-06-10
dbId	9955089
displayName	Colombo, JP
firstname	J P
initial	JP
publications	[LiteratureReference:9957527] A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency [LiteratureReference:9957629] Ornithine transcarbamylase deficiency: new sites with increased probability of mutation [LiteratureReference:9955087] Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
schemaClass	Person
surname	Colombo

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