| http://purl.uniprot.org/citations/26299366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26299366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26299366 | http://www.w3.org/2000/01/rdf-schema#comment | "Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis. It might also play a role in post-translational modification during cell differentiation in neuronal development. Mutations in SPATA5 might affect brain development and function, resulting in microcephaly, developmental delay, and intellectual disability."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2015.07.014"xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2015.07.014"xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "van Gassen K.L."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "van Gassen K.L."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Monaghan K.G."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Monaghan K.G."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Joshi C."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Joshi C."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Wilkins A."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Wilkins A."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Sobreira N."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Sobreira N."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Brilstra E."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Brilstra E."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Deardorff M."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Deardorff M."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Garnica A."xsd:string |
| http://purl.uniprot.org/citations/26299366 | http://purl.uniprot.org/core/author | "Garnica A."xsd:string |