Varaico: Literature-Extracted Genetic Variants

Gene:KIDINS220
Variant:p.E1530*
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KIDINS220

NM_020738.4:p.E1530*

Associated Papers

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Yang W et al.

Heliyon, 2024

NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.

Qi H et al.

Actas Espanolas De Psiquiatria, 2024

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ et al.

Human Molecular Genetics, 2016

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