| http://purl.uniprot.org/citations/33762134 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33762134 | http://www.w3.org/2000/01/rdf-schema#comment | "GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the highly conserved methionine-27 with valine in the transmembrane domain of the mitochondrial SLC25A44."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2021.03.012"xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Orr-Urtreger A."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Bar-Shira A."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Giladi N."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Mirelman A."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Attar R."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Gana-Weisz M."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Goldstein O."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Thaler A."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Shiner T."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/author | "Lederkremer M."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/pages | "109-112"xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/title | "The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44."xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://purl.uniprot.org/core/volume | "133"xsd:string |
| http://purl.uniprot.org/citations/33762134 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33762134 |
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