Source:http://linkedlifedata.com/resource/lhgdn/association:17322
| Subject | Predicate | Object | Context |
|---|---|---|---|
| lhgdn:association:17322 | lhgdn:found_in | pubmed-article:12161600 | lld:lhgdn |
| lhgdn:association:17322 | lhgdn:geneRifSource | MECP2 gene nucleotide changes affect pathology in males: at c.1282 G > A (G428S) severe encephalopathy, at C.1030 C > T (R344W) a Rett-like phenotype, at c.590 C > T (T197M) (congenital encephalopathy, microcephaly, and severe developmental delay). | lld:lhgdn |
| lhgdn:association:17322 | lhgdn:mesh_code | D008831 | lld:lhgdn |
| lhgdn:association:17322 | lhgdn:associationIdType | http://bio2rdf.org/euadr:Po... | lld:lhgdn |
| lhgdn:association:17322 | lhgdn:umls_code | umls-concept:C1956147 | lld:mappings |
| entrez-gene:4204 | lhgdn:associationId | lhgdn:association:17322 | lld:lhgdn |