Literature summary for 2.7.10.1 extracted from

Superti-Furga, A.; Eich, G.; Bucher, H.U.; Wisser, J.; Giedion, A.; Gitzelmann, R.; Steinmann, B.
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995), Eur. J. Pediatr., 154, 215-219.

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Protein Variants

Protein Variants	Comment	Organism
additional information	Gly375Cys substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P22607	-	-

Synonyms

Synonyms	Comment	Organism
fibroblast growth factor receptor 3	-	Homo sapiens

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Release 2023.1 (January 2023)