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Genotype-Phenotype Landscape of NALCN and UNC80 -Related Disorders

6 Mar 2025

Abstract excerpt

BACKGROUND AND OBJECTIVES: , both resulting in a loss-of-function (LOF). This study aims to expand the phenotypes associated with these syndromes, exploring potential genotype-phenotype associations. METHODS: . Phenotypes were evaluated through a structured interview, questionnaires, and review of medical records. Associations between variants, clinical features, and syndromes were analyzed. RESULTS: = 0.014)....

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PMID: 40048676
DOI: 10.1212/wnl.0000000000213429

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