Varaico: Literature-Extracted Genetic Variants

Gene:UNC80
Variant:p.Q340H
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UNC80

NM_001371986.1:p.Q340H

Associated Papers

Structural architecture of the human NALCN channelosome.

Kschonsak M et al.

Nature, 2022

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.

Wie J et al.

Nature Communications, 2020

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB et al.

Nature Genetics, 2012

22729224 (PubMed )
Supplement: NIHMS382270-supplement-1.pdf
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