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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":[{"relationType":"IsIdenticalTo","relatedIdentifier":"10.6084/m9.figshare.14423438","relatedIdentifierType":"DOI"}],"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 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