The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
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| Title: | The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era. |
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| Authors: | Gleason AM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., D'Souza A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Ryan E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Grochowsky AR; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Carter CR; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, USA., Lopez G; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Tayebi N; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Sidransky E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1783-1791. Date of Electronic Publication: 2023 Apr 12. |
| Publication Type: | Journal Article; Research Support, N.I.H., Intramural |
| 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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