Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R264W
Back to variants list

PANK2

NM_153638.4:p.R264W

Associated Papers

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

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

Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: six-year follow-up.

Picillo M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA et al.

Current Neuropharmacology, 2013

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

Hayflick SJ et al.

The New England Journal of Medicine, 2003

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Zhou B et al.

Nature Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."