Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.
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| Title: | Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome. |
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| Authors: | Gupta P, Balton EV, Tejura M, Kumar RD, Snyder MW, Stone J, Villani RM, Byers PH, Chanprasert S, Glass IA, Horike-Pyne M, Miller DE, Ranchalis J, Rosenthal EA, Solomon AK, Wener M, Leppig KA, Benson MD, MacPherson MJ, Jarvik GP, Dipple KM, Blue EE, Fowler DM, Starita LM, McEwen AE, Stergachis AB |
| Corporate Authors: | Undiagnosed Diseases Network (UDN) |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 21. Date of Electronic Publication: 2026 May 21. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42238420 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42238420 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.64898/2026.05.15.26352805 Languages: – Code: eng Text: English Titles: – TitleFull: Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gupta P – PersonEntity: Name: NameFull: Balton EV – PersonEntity: Name: NameFull: Tejura M – PersonEntity: Name: NameFull: Kumar RD – PersonEntity: Name: NameFull: Snyder MW – PersonEntity: Name: NameFull: Stone J – PersonEntity: Name: NameFull: Villani RM – PersonEntity: Name: NameFull: Byers PH – PersonEntity: Name: NameFull: Chanprasert S – PersonEntity: Name: NameFull: Glass IA – PersonEntity: Name: NameFull: Horike-Pyne M – PersonEntity: Name: NameFull: Miller DE – PersonEntity: Name: NameFull: Ranchalis J – PersonEntity: Name: NameFull: Rosenthal EA – PersonEntity: Name: NameFull: Solomon AK – PersonEntity: Name: NameFull: Wener M – PersonEntity: Name: NameFull: Leppig KA – PersonEntity: Name: NameFull: Benson MD – PersonEntity: Name: NameFull: MacPherson MJ – PersonEntity: Name: NameFull: Jarvik GP – PersonEntity: Name: NameFull: Dipple KM – PersonEntity: Name: NameFull: Blue EE – PersonEntity: Name: NameFull: Fowler DM – PersonEntity: Name: NameFull: Starita LM – PersonEntity: Name: NameFull: McEwen AE – PersonEntity: Name: NameFull: Stergachis AB IsPartOfRelationships: – BibEntity: Dates: – D: 21 M: 05 Text: 2026 May 21 Type: published Y: 2026 Titles: – TitleFull: MedRxiv : the preprint server for health sciences Type: main |
| ResultId | 1 |
