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Human FGFR3 wild-type allele is located in the vicinity of 4p16.3 and is approximately 15 kb in length. This allele, which encodes fibroblast growth factor receptor 3 protein, is involved in mitogenesis, differentiation, and bone development and maintenance. Alterations in the gene resulting in defects cause, achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers.
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