Query author contributions in Reactome

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Details on Person Mandel, H

Class:Id	Person:199663
_displayName	Mandel, H
_timestamp	2007-07-11 18:15:55
created	[InstanceEdit:199631] D'Eustachio, P, 2007-07-11 18:15:46
firstname	Hanna
initial	H
surname	Mandel
(author)	[LiteratureReference:199651] Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness [LiteratureReference:549206] Molecular basis of hepatic carnitine palmitoyltransferase I deficiency [LiteratureReference:3000249] Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia [LiteratureReference:4755618] Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation [LiteratureReference:6787460] Acute infantile liver failure due to mutations in the TRMU gene [LiteratureReference:9841125] A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans [LiteratureReference:9958726] Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
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No pathways have been reviewed or authored by Mandel, H (199663)