Source:http://linkedlifedata.com/resource/lhgdn/association:17322
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| 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).
|
| lhgdn:mesh_code |
D008831
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |