Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
Publication year
2023Source
Human Mutation, 2023, (2023), article 6815504ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
Human Mutation
Volume
vol. 2023
Subject
Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 12: Sensory disorders Human Genetics; Radboud University Medical CenterThis item appears in the following Collection(s)
- Academic publications [242767]
- Electronic publications [129609]
- Faculty of Medical Sciences [92292]
- Open Access publications [104191]
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