A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.

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Bibliographic Details
Title: A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.
Authors: Connelly E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Laraway B; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Mullen KR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Haendel MA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Hurwitz EG; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 12. Date of Electronic Publication: 2026 Feb 12.
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
Description
DOI:10.64898/2026.02.10.26346018