Query author contributions in Reactome

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Details on Person Cohn, DH

Class:Id	Person:176475
_displayName	Cohn, DH
_timestamp	2006-03-08 20:43:06
created	[InstanceEdit:176534] D'Eustachio, P, 2006-03-08 20:43:01
firstname	Daniel H
initial	DH
surname	Cohn
(author)	[LiteratureReference:176653] Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse [LiteratureReference:2002426] Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene [LiteratureReference:2002463] Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis [LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 [LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I [LiteratureReference:2426250] Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin [LiteratureReference:2470554] A type X collagen mutation causes Schmid metaphyseal chondrodysplasia [LiteratureReference:2470656] Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene [LiteratureReference:3621693] Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene [LiteratureReference:3621704] Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred List all 11 refering instances
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No pathways have been reviewed or authored by Cohn, DH (176475)