Query author contributions in Reactome

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Details on Person Bole-Feysot, Christine

Class:Id	Person:5420859
_displayName	Bole-Feysot, Christine
_timestamp	2014-05-04 08:49:56
created	[InstanceEdit:5420853] May, Bruce, 2014-05-04
firstname	Christine
initial	C
surname	Bole-Feysot
(author)	[LiteratureReference:5420868] TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9 [LiteratureReference:5617722] Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans [LiteratureReference:6792624] Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase [LiteratureReference:9856303] ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption [LiteratureReference:9857614] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy [LiteratureReference:9940699] Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
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No pathways have been reviewed or authored by Bole-Feysot, Christine (5420859)