Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q704*
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SMC1A

NM_006306.4:p.Q704*

Associated Papers

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Astorino MF et al.

Genes, 2025

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Gibellato E et al.

American Journal of Medical Genetics. Part A, 2024

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