| http://purl.uniprot.org/citations/27187610 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27187610 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). We report these patients, describe the mutations and review the current literature."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12804"xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Elpeleg O."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Shaag A."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Stepensky P."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Yaacov B."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Weintraub M."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "NaserEddin A."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/author | "Shamriz O."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/pages | "80-85"xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/title | "The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis."xsd:string |
| http://purl.uniprot.org/citations/27187610 | http://purl.uniprot.org/core/volume | "92"xsd:string |
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| http://purl.uniprot.org/citations/27187610 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27187610 |
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