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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.

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Title: A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Authors: Nazlamova L; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Thomas NS; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK., Cheung MK; Centre for Research in Biosciences, University of the West of England, Bristol, Bristol, UK., Legebeke J; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Lord J; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; University Hospital Southampton NHS Foundation Trust, Southampton, UK., Pengelly RJ; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; University Hospital Southampton NHS Foundation Trust, Southampton, UK., Tapper WJ; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Wheway G; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK. G.Wheway@soton.ac.uk.; University Hospital Southampton NHS Foundation Trust, Southampton, UK. G.Wheway@soton.ac.uk.
Source: Human genetics [Hum Genet] 2021 Apr; Vol. 140 (4), pp. 593-607. Date of Electronic Publication: 2020 Oct 23.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
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  Data: <searchLink fieldCode="AU" term="%22Nazlamova+L%22">Nazlamova L</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+NS%22">Thomas NS</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.<br /><searchLink fieldCode="AU" term="%22Cheung+MK%22">Cheung MK</searchLink>; Centre for Research in Biosciences, University of the West of England, Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Legebeke+J%22">Legebeke J</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; University Hospital Southampton NHS Foundation Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Pengelly+RJ%22">Pengelly RJ</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; University Hospital Southampton NHS Foundation Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Tapper+WJ%22">Tapper WJ</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Wheway+G%22">Wheway G</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK. G.Wheway@soton.ac.uk.; University Hospital Southampton NHS Foundation Trust, Southampton, UK. G.Wheway@soton.ac.uk.
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        Value: 10.1007/s00439-020-02228-1
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              Text: 2021 Apr
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