Varaico: Literature-Extracted Genetic Variants

Gene:KPTN
Variant:p.R288Splc
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KPTN

NM_007059.4:p.R288Splc

Associated Papers

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Rawlins LE et al.

Annals of Neurology, 2026

Kaptin-Actin Binding Protein (KPTN)-Related Disorder: A Case Report of Two Siblings Harboring a Novel KPTN Mutation.

Biswas I et al.

Cureus, 2025

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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."