Query author contributions in Reactome

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Details on Person Wasmuth, JJ

Class:Id	Person:2032903
_displayName	Wasmuth, JJ
_timestamp	2012-01-08 03:49:59
created	[InstanceEdit:2032902] Rothfels, K, 2012-01-08
firstname	John J
initial	JJ
surname	Wasmuth
(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:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 [LiteratureReference:2060842] Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia [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:2161327] Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2
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No pathways have been reviewed or authored by Wasmuth, JJ (2032903)