Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.Y227C
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PANK2

NM_153638.4:p.Y227C

Associated Papers

Rare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.

Vardarajan BN et al.

Brain Communications, 2025

Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.

Saini A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Werning M et al.

Biomolecules, 2022

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Darling A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J et al.

Plos One, 2015

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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."