Rare disease gene association discovery in the 100,000 Genomes Project.
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| Title: | Rare disease gene association discovery in the 100,000 Genomes Project. |
|---|---|
| Authors: | Cipriani, Valentina1,2,3 (AUTHOR) v.cipriani@qmul.ac.uk, Vestito, Letizia1 (AUTHOR), Magavern, Emma F.1 (AUTHOR), Jacobsen, Julius O. B.1 (AUTHOR), Arno, Gavin2,4 (AUTHOR), Behr, Elijah R.5,6 (AUTHOR), Benson, Katherine A.7 (AUTHOR), Bertoli, Marta8 (AUTHOR), Bockenhauer, Detlef9,10 (AUTHOR), Bowl, Michael R.11 (AUTHOR), Burley, Kate12 (AUTHOR), Chan, Li F.13 (AUTHOR), Chinnery, Patrick14 (AUTHOR), Conlon, Peter J.15 (AUTHOR), Costa, Marcos A.2 (AUTHOR), Davidson, Alice E.2 (AUTHOR), Dawson, Sally J.11 (AUTHOR), Elhassan, Elhussein A. E.15 (AUTHOR), Flanagan, Sarah E.16 (AUTHOR), Futema, Marta5,17 (AUTHOR) |
| Source: | Nature. Feb2025, p1-9. 9p. |
| Database: | Academic Search Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 183271458 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=asn&AN=183271458 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41586-025-08623-w Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 1 Titles: – TitleFull: Rare disease gene association discovery in the 100,000 Genomes Project. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cipriani, Valentina – PersonEntity: Name: NameFull: Vestito, Letizia – PersonEntity: Name: NameFull: Magavern, Emma F. – PersonEntity: Name: NameFull: Jacobsen, Julius O. B. – PersonEntity: Name: NameFull: Arno, Gavin – PersonEntity: Name: NameFull: Behr, Elijah R. – PersonEntity: Name: NameFull: Benson, Katherine A. – PersonEntity: Name: NameFull: Bertoli, Marta – PersonEntity: Name: NameFull: Bockenhauer, Detlef – PersonEntity: Name: NameFull: Bowl, Michael R. – PersonEntity: Name: NameFull: Burley, Kate – PersonEntity: Name: NameFull: Chan, Li F. – PersonEntity: Name: NameFull: Chinnery, Patrick – PersonEntity: Name: NameFull: Conlon, Peter J. – PersonEntity: Name: NameFull: Costa, Marcos A. – PersonEntity: Name: NameFull: Davidson, Alice E. – PersonEntity: Name: NameFull: Dawson, Sally J. – PersonEntity: Name: NameFull: Elhassan, Elhussein A. E. – PersonEntity: Name: NameFull: Flanagan, Sarah E. – PersonEntity: Name: NameFull: Futema, Marta IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 02 Text: Feb2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 00280836 Titles: – TitleFull: Nature Type: main |
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