PubMed:22453924 / 0-125
Annnotations
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":44,"end":54},"obj":"gene:1756"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dyst"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"22453924-0#44#54#gene1756","span":{"begin":44,"end":54},"obj":"gene1756"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dyst"}
UBERON-AE
{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":55,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dyst"}
performance-test
{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T2","span":{"begin":55,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dyst"}