Varaico: Literature-Extracted Genetic Variants

Gene:NUS1
Variant:p.T250delFs
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NUS1

NM_138459.5:p.T250delFs

Associated Papers

Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.

Sau C et al.

Frontiers in Genetics, 2025

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.

Li R et al.

Frontiers in Genetics, 2024

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