. . . . . . . . . . . . "[We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:49+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .