Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.L572V
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DYNC1H1

NM_001376.5:p.L572V

Associated Papers

DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.

Wu WC et al.

Seizure, 2024

DYNC1H1-related epilepsy: Genotype-phenotype correlation.

Liu W et al.

Developmental Medicine and Child Neurology, 2023

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