Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.
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| Title: | Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. |
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| Authors: | Fitzsimmons, Lane1,2 (AUTHOR), Acosta, Maria T. (AUTHOR), Adams, David R. (AUTHOR), Afzali, Ben (AUTHOR), Al-Beshri, Ali (AUTHOR), Allenspach, Eric (AUTHOR), Allworth, Aimee (AUTHOR), Alvarez, Raquel L. (AUTHOR), Alvey, Justin (AUTHOR), Andrews, Ashley (AUTHOR), Ashley, Euan A. (AUTHOR), Bacino, Carlos A. (AUTHOR), Bademci, Guney (AUTHOR), Balasubramanyam, Ashok (AUTHOR), Baldridge, Dustin (AUTHOR), Baldwin, Erin (AUTHOR), Bale, Jim (AUTHOR), Bamshad, Michael (AUTHOR), Barbouth, Deborah (AUTHOR), Bayrak-Toydemir, Pinar (AUTHOR) |
| Source: | BioData Mining. 1/17/2025, Vol. 18 Issue 1, p1-16. 16p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 182304891 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13040-024-00418-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 16 StartPage: 1 Titles: – TitleFull: Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fitzsimmons, Lane – PersonEntity: Name: NameFull: Acosta, Maria T. – PersonEntity: Name: NameFull: Adams, David R. – PersonEntity: Name: NameFull: Afzali, Ben – PersonEntity: Name: NameFull: Al-Beshri, Ali – PersonEntity: Name: NameFull: Allenspach, Eric – PersonEntity: Name: NameFull: Allworth, Aimee – PersonEntity: Name: NameFull: Alvarez, Raquel L. – PersonEntity: Name: NameFull: Alvey, Justin – PersonEntity: Name: NameFull: Andrews, Ashley – PersonEntity: Name: NameFull: Ashley, Euan A. – PersonEntity: Name: NameFull: Bacino, Carlos A. – PersonEntity: Name: NameFull: Bademci, Guney – PersonEntity: Name: NameFull: Balasubramanyam, Ashok – PersonEntity: Name: NameFull: Baldridge, Dustin – PersonEntity: Name: NameFull: Baldwin, Erin – PersonEntity: Name: NameFull: Bale, Jim – PersonEntity: Name: NameFull: Bamshad, Michael – PersonEntity: Name: NameFull: Barbouth, Deborah – PersonEntity: Name: NameFull: Bayrak-Toydemir, Pinar IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 01 Text: 1/17/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17560381 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: BioData Mining Type: main |
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