Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD17
Variant:p.R418*
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ANKRD17

NM_032217.5:p.R418*

Associated Papers

Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder.

Xia D et al.

Journal of Neurodevelopmental Disorders, 2025

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_3.XLS › NDD-NPDs
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