Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R357W
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PANK2

NM_153638.4:p.R357W

Associated Papers

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.

Farsana MK et al.

Journal of Movement Disorders, 2026

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Angural A et al.

Frontiers in Genetics, 2020

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.

Angural A et al.

Scientific Reports, 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

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.

Dezfouli MA et al.

Iranian Journal of Neurology, 2012

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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."