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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KPTN

Variant:p.V231delFs

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KPTN

NM_007059.4:p.V231delFs

hg38:chr19:47480314 CA>C

Associated Papers

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

Rawlins LE et al.

Annals of Neurology, 2026

41696790 (PubMed )

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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."