Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L275fs
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PANK2

NM_001386393.1:p.L275fs

Associated Papers

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.

Ahmadipour M et al.

Annals of Clinical and Translational Neurology, 2025

40539305 (PubMed )
Supplement: ACN3-12-1660-s001.pdf

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.

Werning M et al.

Biomolecules, 2022

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Lee JH et al.

Journal of Movement Disorders, 2016

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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."