Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.V226I
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PANK2

NM_153638.4:p.V226I

Associated Papers

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

Kava H et al.

Frontiers in Pediatrics, 2025

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Sait H et al.

Neurogenetics, 2023

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.

Akcakaya NH et al.

Clinical Neurology and Neurosurgery, 2017

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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."