Query author contributions in Reactome

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Details on Person Faivre, Laurence

Class:Id	Person:3315458
_displayName	Faivre, Laurence
_timestamp	2013-04-25 09:47:48
created	[InstanceEdit:3315407] Jassal, B, 2013-04-25
firstname	Laurence
initial	L
surname	Faivre
(author)	[LiteratureReference:3315422] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene [LiteratureReference:3322922] Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis [LiteratureReference:5483228] Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling [LiteratureReference:5675667] Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases [LiteratureReference:5692447] Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux [LiteratureReference:8871449] Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
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No pathways have been reviewed or authored by Faivre, Laurence (3315458)