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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.
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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Description
ISSN:17560381
DOI:10.1186/s13040-024-00418-5