Varaico: Literature-Extracted Genetic Variants

Gene:UNC80
Variant:p.E2566V
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UNC80

NM_032504.2:p.E2566V

Associated Papers

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

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