A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
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| Title: | A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. |
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| Authors: | Loftus SK; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Lundh L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Baxter LL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Pairo-Castineira E; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Nisc Comparative Sequencing Program; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Jackson IJ; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Oetting WS; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA., Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Adams DR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. |
| Source: | Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1239-1253. Date of Electronic Publication: 2021 Aug 01. |
| Publication Type: | Journal Article; Research Support, N.I.H., Intramural |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24257 |
