Varaico: Literature-Extracted Genetic Variants

Gene:KIDINS220
Variant:p.E1382*
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KIDINS220

NM_020738.4:p.E1382*

Associated Papers

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Bonati MT et al.

Genes, 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."