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. |
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| 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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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-020-02228-1 |
