Associated Papers
Clinical Utility of Whole-Exome Sequencing in a Consanguineous Family with UNC80-related Neurodevelopmental Disorder: A Case Series and Review of the Literature.
Alshabani DM et al.
Cureus, 2025
Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2.
Tao Y et al.
Frontiers in Genetics, 2021
34594366 (PubMed )
Supplement: Table1.XLSX › Sheet1
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC et al.
Human Genetics, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
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