PubMed:11278977 / 0-103 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11278977-0#0#6#gene1289","span":{"begin":0,"end":6},"obj":"gene1289"}],"text":"COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1("}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":6},"obj":"gene:1289"},{"id":"T2","span":{"begin":95,"end":102},"obj":"gene:146"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1("}