Query author contributions in Reactome

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Details on Person Nobukuni, Y

Class:Id	Person:9824942
_displayName	Nobukuni, Y
_timestamp	2023-01-23 18:17:00
created	[InstanceEdit:9824943] Rothfels, Karen, 2023-01-23
firstname	Y
initial	Y
surname	Nobukuni
(author)	[LiteratureReference:9824940] Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance [LiteratureReference:9864963] Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region [LiteratureReference:9864967] Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity
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No pathways have been reviewed or authored by Nobukuni, Y (9824942)