Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R278L
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PANK2

NM_153638.4:p.R278L

Associated Papers

Missense variants in PKAN: insights from a multi-patient genetic analysis.

Kılıç M et al.

Neurogenetics, 2025

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.

Werning M et al.

Annals of Clinical and Translational Neurology, 2020

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

Akcakaya NH et al.

Clinical Neurology and Neurosurgery, 2017

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

Arber C et al.

Plos One, 2017

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Hayflick SJ et al.

The New England Journal of Medicine, 2003

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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."