{"data":{"id":"10.6084/m9.figshare.14423438","type":"dois","attributes":{"doi":"10.6084/m9.figshare.14423438","prefix":"10.6084","suffix":"m9.figshare.14423438","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Wayhelova, Marketa","givenName":"Marketa","familyName":"Wayhelova","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA"}],"publisher":"figshare","container":{},"publicationYear":2021,"subjects":[{"subject":"110311 Medical Genetics (excl. Cancer Genetics)","schemeUri":"http://www.abs.gov.au/ausstats/abs@.nsf/0/6BB427AB9696C225CA2574180004463E","subjectScheme":"FOR"},{"subject":"FOS: Basic medicine","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"60410 Neurogenetics","schemeUri":"http://www.abs.gov.au/ausstats/abs@.nsf/0/6BB427AB9696C225CA2574180004463E","subjectScheme":"FOR"}],"contributors":[],"dates":[{"date":"2021-07-09","dateType":"Created"},{"date":"2021-07-09","dateType":"Updated"},{"date":"2021","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[],"relatedItems":[],"sizes":["1054250 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Capillary electrophoresis pattern of a proband A, proband B and their mother (1x \u003ci\u003eSMN1\u003c/i\u003e; 1x \u003ci\u003eSMN2)\u003c/i\u003e analysed with SALSA MLPA probemix P060 SMA Carrier. The approximately 50% decrease of peaks SMN1-7 (\u003ci\u003eSMN1\u003c/i\u003e, exon 7), SMN1-8 (\u003ci\u003eSMN1,\u003c/i\u003e exon 8), SMN2-7 (\u003ci\u003eSMN2,\u003c/i\u003e exon7), SMN2-8 (\u003ci\u003eSMN2\u003c/i\u003e, exon 8) was detected.Capillary electrophoresis pattern of negative control is attached.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[{"awardTitle":"The role of pathogenic genetic variants identified by exome sequencing in the etiology of pediatric neurodevelopmental disorders","funderName":"Ministry of Health","awardNumber":"NU20-07-00145","funderIdentifierType":"GRID"}],"xml":"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","url":"https://figshare.com/articles/dataset/5q13_2_heterozygous_deletion_SMN1_SMN2_verified_by_MLPA/14423438","contentUrl":null,"metadataVersion":1,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"viewsOverTime":[],"downloadCount":0,"downloadsOverTime":[],"referenceCount":0,"citationCount":0,"citationsOverTime":[],"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2021-04-15T11:43:14.000Z","registered":"2021-04-15T11:43:15.000Z","published":"2021","updated":"2021-07-09T12:35:45.000Z"},"relationships":{"client":{"data":{"id":"figshare.ars","type":"clients"}},"provider":{"data":{"id":"otjm","type":"providers"}},"media":{"data":{"id":"10.6084/m9.figshare.14423438","type":"media"}},"references":{"data":[]},"citations":{"data":[]},"parts":{"data":[]},"partOf":{"data":[]},"versions":{"data":[]},"versionOf":{"data":[]}}}}