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Functional assay for assessment of pathogenicity of BAP1 variants.

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Title: Functional assay for assessment of pathogenicity of BAP1 variants.
Authors: Repo PE; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland., Backlund MP; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland., Kivelä TT; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland., Turunen JA; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.; Ophthalmic Genetics and Rare Eye Diseases Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland.
Source: Human molecular genetics [Hum Mol Genet] 2024 Feb 18; Vol. 33 (5), pp. 426-434.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Repo+PE%22">Repo PE</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Backlund+MP%22">Backlund MP</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kivelä+TT%22">Kivelä TT</searchLink>; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Turunen+JA%22">Turunen JA</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.; Ophthalmic Genetics and Rare Eye Diseases Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4 C, PL220, FI-00029 HUS, Helsinki, Finland.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2024 Feb 18; Vol. 33 (5), pp. 426-434.
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        Value: 10.1093/hmg/ddad193
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              Text: 2024 Feb 18
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