| http://purl.uniprot.org/citations/25256757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25256757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25256757 | http://www.w3.org/2000/01/rdf-schema#comment | "A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large family originally reported with this disorder, we identified a 23 bp frameshift deletion in the RNA binding motif protein X-linked (RBMX) gene at Xq26 in the affected males (n = 7), one carrier female, absent in unaffected males (n = 2) and in control databases (7800 exomes). The RBMX gene has not been previously causal of human disease. We examined the genic intolerance scores for the coding regions and the non-coding regions of RBMX; the findings were indicative of RBMX being relatively intolerant to loss of function variants, a distinctive pattern seen in a subset of XLID genes. Prior expression and animal modeling studies indicate that loss of function of RBMX results in abnormal brain development. Our finding putatively adds a novel gene to the loci associated with XLID and may enable the identification of other individuals affected with this distinctive syndrome."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12511"xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12511"xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Allen A."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Allen A."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Xie P."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Xie P."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Goldstein D.B."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Goldstein D.B."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Schwartz C.E."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Schwartz C.E."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Need A.C."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Need A.C."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Schoch K."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Schoch K."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Shashi V."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Shashi V."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Howard T.D."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Howard T.D."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Berry M.N."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Berry M.N."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Cronin K."xsd:string |
| http://purl.uniprot.org/citations/25256757 | http://purl.uniprot.org/core/author | "Cronin K."xsd:string |