Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

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Bibliographic Details
Title: Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
Authors: Harrison BA; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA., Mizrahi-Powell E; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, New York, USA., Pappas J; Department of Pediatrics, Clinical Genetic Services, NYU Langone Medical Center, New York, New York, USA., Thomas K; Department of Pathology, NYU Langone Health, New York University School of Medicine, New York, New York, USA., Vasishta S; Department of Medical Genetics and., Hebbar S; Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Shukla A; Department of Medical Genetics and., Nayak SS; Department of Medical Genetics and., Truong TK; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, New York, USA., Woroch A; Department of Genetics and Genomic Sciences and., Kharbutli Y; Department of Genetics and Genomic Sciences and., Gelb BD; Department of Genetics and Genomic Sciences and.; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Mintz CS; Department of Genetics and Genomic Sciences and., Evrony GD; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, New York, USA.; Department of Pediatrics, Department of Neuroscience and Physiology, Institute for Systems Genetics, Perlmutter Cancer Center, and Neuroscience Institute, New York University Grossman School of Medicine, New York, New York, USA., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.
Source: The Journal of clinical investigation [J Clin Invest] 2025 Apr 17; Vol. 135 (11). Date of Electronic Publication: 2025 Apr 17 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1558-8238
DOI:10.1172/JCI185126