Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R481*
Back to variants list

PANK2

NM_153638.4:p.R481*

Associated Papers

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

Santambrogio P et al.

International Journal of Molecular Sciences, 2020

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.

Houlden H et al.

Neurology, 2003

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

Ching KH et al.

Neurology, 2002

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."