Varaico: Literature-Extracted Genetic Variants

Gene:KPTN
Variant:p.R288fs
Back to variants list

KPTN

NM_007059.4:p.R288fs

Associated Papers

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

Rawlins LE et al.

Annals of Neurology, 2026

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Luo X et al.

Journal of Translational Medicine, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."