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Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

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Title: Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.
Authors: Fasham J; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.; South West Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK., McPhater A; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK., Whittington R; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Southmead Road, Bristol, BS10 5NB, UK., Pagnamenta AT; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK., Hall TS; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK., Berry IR; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Southmead Road, Bristol, BS10 5NB, UK., Weedon MN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK., Baple EL; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.; South West Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK., Wright CF; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK., Jackson L; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK. l.jackson2@exeter.ac.uk.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 18. Date of Electronic Publication: 2026 May 18.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Fasham+J%22">Fasham J</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.; South West Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.<br /><searchLink fieldCode="AU" term="%22McPhater+A%22">McPhater A</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Whittington+R%22">Whittington R</searchLink>; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Southmead Road, Bristol, BS10 5NB, UK.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Hall+TS%22">Hall TS</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Berry+IR%22">Berry IR</searchLink>; Bristol Genetics Laboratory, North Bristol NHS Trust, Southmead Hospital, Southmead Road, Bristol, BS10 5NB, UK.<br /><searchLink fieldCode="AU" term="%22Weedon+MN%22">Weedon MN</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Baple+EL%22">Baple EL</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.; South West Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.<br /><searchLink fieldCode="AU" term="%22Wright+CF%22">Wright CF</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Jackson+L%22">Jackson L</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX2 5DW, UK. l.jackson2@exeter.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 May 18. <i>Date of Electronic Publication: </i>2026 May 18.
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              Text: 2026 May 18
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