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https://ahro.austin.org.au/austinjspui/handle/1/34232| Title: | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | Austin Authors: | Ye, Zimeng;Lin, Sufang;Zhao, Xia;Wallis, Mathew J ;Gao, Xinyi;Sun, Li;Wu, Jiarui;Duan, Jing;Yao, Yi;Li, Lin;Chen, Li;Cao, Dezhi;Hu, Zhanqi;Zhang, Victor W;Berkovic, Samuel F ;Scheffer, Ingrid E ;Liao, Jianxiang;Hildebrand, Michael S | Affiliation: | Epilepsy Research Centre Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China. Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China. Tasmania Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia; School of Medicine, University of Tasmania, Hobart, Tasmania, Australia; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia; Austin Health, Heidelberg, Victoria, Australia. AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China. AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China. |
Issue Date: | 22-Oct-2023 | Date: | 2023 | Publication information: | Pediatric Neurology 2023-10-22; 150 | URI: | https://ahro.austin.org.au/austinjspui/handle/1/34232 | DOI: | 10.1016/j.pediatrneurol.2023.10.008 | ORCID: | Journal: | Pediatric Neurology | Start page: | 37 | End page: | 39 | PubMed URL: | 37951160 | ISSN: | 1873-5150 | Type: | Journal Article | Subjects: | Exome sequencing Mosaicism Recurrence risk Tuberous sclerosis complex Variant interpretation |
| Appears in Collections: | Journal articles |
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