Functional assay for assessment of pathogenicity of BAP1 variants.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1460-2083 |
|---|---|
| DOI: | 10.1093/hmg/ddad193 |
