Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.A317P
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SOX6

NM_001367873.1:p.A317P

Associated Papers

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Wu R et al.

Frontiers in Neurology, 2025

41170324 (PubMed )
Supplement: Data_Sheet_5.XLS › NDD-NPDs

Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.

Garrido-Torres N et al.

European Child & Adolescent Psychiatry, 2024

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