Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.G138_A139insA
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SMC1A

NM_006306.4:p.G138_A139insA

Associated Papers

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Chen Y et al.

Seizure, 2025

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.

Li C et al.

Scientific Reports, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."