Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
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| Title: | Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy. |
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| Authors: | Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sisco KA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Stone SI; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sheehan JH; John T. Milliken Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA., Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA. |
| Corporate Authors: | Undiagnosed Diseases Network |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63854. Date of Electronic Publication: 2024 Aug 21. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63854 |
