Varaico: Literature-Extracted Genetic Variants

Gene:KIDINS220
Variant:p.Q1393*
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KIDINS220

NM_020738.4:p.Q1393*

Associated Papers

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Bai L et al.

Artificial Cells, Nanomedicine, and Biotechnology, 2026

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Chu X et al.

Frontiers in Neuroscience, 2025

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

Yang W et al.

Heliyon, 2024

Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.

Zhang J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."