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

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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
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DbLabel: MEDLINE Ultimate
An: 41728284
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.
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  Data: <searchLink fieldCode="AU" term="%22Connelly+E%22">Connelly E</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.<br /><searchLink fieldCode="AU" term="%22Laraway+B%22">Laraway B</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.<br /><searchLink fieldCode="AU" term="%22Mullen+KR%22">Mullen KR</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.<br /><searchLink fieldCode="AU" term="%22Hurwitz+EG%22">Hurwitz EG</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Feb 12. <i>Date of Electronic Publication: </i>2026 Feb 12.
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41728284
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        Value: 10.64898/2026.02.10.26346018
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        Text: English
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      – TitleFull: A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.
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              Text: 2026 Feb 12
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