Query author contributions in Reactome

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Details on Person Bellus, GA

Class:Id	Person:2032804
_displayName	Bellus, GA
_timestamp	2012-01-08 03:46:58
created	[InstanceEdit:2032805] Rothfels, K, 2012-01-08
firstname	Gary A
initial	GA
surname	Bellus
(author)	[LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene [LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype [LiteratureReference:2045069] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes [LiteratureReference:2054031] A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia [LiteratureReference:2060834] Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 [LiteratureReference:2060844] Achondroplasia is defined by recurrent G380R mutations of FGFR3
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No pathways have been reviewed or authored by Bellus, GA (2032804)