Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.
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| Title: | Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery. |
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| Authors: | Zhang, Xiaolei1,2,3,4 (AUTHOR) xiaolei@ebi.ac.uk, Theotokis, Pantazis I.1,2,3 (AUTHOR), Li, Nicholas1,2,3 (AUTHOR), Ashley, Euan (AUTHOR), Colan, Steven D. (AUTHOR), Day, Sharlene M. (AUTHOR), Helms, Adam (AUTHOR), Ho, Carolyn Y. (AUTHOR), Ingles, Jodie (AUTHOR), Jacoby, Daniel (AUTHOR), Lakdawala, Neal K. (AUTHOR), Michels, Michelle (AUTHOR), Olivotto, Iacopo (AUTHOR), Owens, Anjali (AUTHOR), Parikh, Victoria N. (AUTHOR), Pereira, Alexandre C. (AUTHOR), Rossano, Joseph (AUTHOR), Saberi, Sara (AUTHOR), Semsarian, Chris (AUTHOR), Wittekind, Samuel (AUTHOR) |
| Source: | Genome Medicine. 7/11/2024, Vol. 16 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 178403101 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=178403101 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-024-01358-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zhang, Xiaolei – PersonEntity: Name: NameFull: Theotokis, Pantazis I. – PersonEntity: Name: NameFull: Li, Nicholas – PersonEntity: Name: NameFull: Ashley, Euan – PersonEntity: Name: NameFull: Colan, Steven D. – PersonEntity: Name: NameFull: Day, Sharlene M. – PersonEntity: Name: NameFull: Helms, Adam – PersonEntity: Name: NameFull: Ho, Carolyn Y. – PersonEntity: Name: NameFull: Ingles, Jodie – PersonEntity: Name: NameFull: Jacoby, Daniel – PersonEntity: Name: NameFull: Lakdawala, Neal K. – PersonEntity: Name: NameFull: Michels, Michelle – PersonEntity: Name: NameFull: Olivotto, Iacopo – PersonEntity: Name: NameFull: Owens, Anjali – PersonEntity: Name: NameFull: Parikh, Victoria N. – PersonEntity: Name: NameFull: Pereira, Alexandre C. – PersonEntity: Name: NameFull: Rossano, Joseph – PersonEntity: Name: NameFull: Saberi, Sara – PersonEntity: Name: NameFull: Semsarian, Chris – PersonEntity: Name: NameFull: Wittekind, Samuel IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 07 Text: 7/11/2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1756994X Numbering: – Type: volume Value: 16 – Type: issue Value: 1 Titles: – TitleFull: Genome Medicine Type: main |
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