| http://purl.uniprot.org/citations/26273451 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26273451 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26273451 | http://www.w3.org/2000/01/rdf-schema#comment | "X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype-phenotype correlations."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.org/dc/terms/identifier | "doi:10.1002/ccr3.301"xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.org/dc/terms/identifier | "doi:10.1002/ccr3.301"xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Lesca G."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Lesca G."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Trujillo C."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Trujillo C."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Alwasiyah M.K."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Alwasiyah M.K."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Bouazzi H."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/author | "Bouazzi H."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/name | "Clin. Case Rep."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/name | "Clin. Case Rep."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/pages | "604-609"xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/pages | "604-609"xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/title | "Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/title | "Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]."xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/26273451 | http://purl.uniprot.org/core/volume | "3"xsd:string |