. . . . . . . "[The findings in this study confirm that mutations of exon 48 of the COL2A1 gene, that alter the normal Gly-X-Y triplet structure of the corresponding region of alpha 1(II) chains of type II collagen, produce the spondyloepiphyseal dysplasia congenita phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:11:38+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .