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TSC is caused by mutations in\n                    <jats:italic>TSC1<\/jats:italic>\n                    and\n                    <jats:italic>TSC2<\/jats:italic>\n                    . Here, we present the\n                    <jats:italic>TSC1<\/jats:italic>\n                    and\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants identified in 168 Danish individuals out of a cohort of 327 individuals suspected of TSC. A total of 137 predicted pathogenic or likely pathogenic variants were identified: 33 different\n                    <jats:italic>TSC1<\/jats:italic>\n                    variants in 42 patients, and 104 different\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants in 126 patients. In 40 cases (24%), the identified predicted pathogenic variant had not been described previously. In total, 33 novel variants in\n                    <jats:italic>TSC2<\/jats:italic>\n                    and 7 novel variants in\n                    <jats:italic>TSC1<\/jats:italic>\n                    were identified. To assist in the classification of 11\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants, we investigated the effects of these variants in an\n                    <jats:italic>in vitro<\/jats:italic>\n                    functional assay. Based on the functional results, as well as population and genetic data, we classified 8 variants as likely to be pathogenic and 3 as likely to be benign.\n                  <\/jats:p>","DOI":"10.1038\/s41598-020-66588-4","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T06:03:26Z","timestamp":1592460206000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex"],"prefix":"10.1038","volume":"10","author":[{"given":"Thomas","family":"Rosengren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santoesha","family":"Nanhoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Gustavo Dufner","family":"de Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bitten","family":"Sch\u00f6newolf-Greulich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lasse Jonsgaard","family":"Larsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4602-5265","authenticated-orcid":false,"given":"Caroline Amalie Brunbjerg","family":"Hey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Risom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Nellist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9524-4301","authenticated-orcid":false,"given":"Lisbeth Birk","family":"M\u00f8ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,18]]},"reference":[{"key":"66588_CR1","doi-asserted-by":"publisher","first-page":"1571","DOI":"10.1185\/03007995.2011.586687","volume":"27","author":"L Hallett","year":"2011","unstructured":"Hallett, L., Foster, T., Liu, Z., Blieden, M. & Valentim, J. 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