Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.T124A
Back to variants list

PANK2

NM_001386393.1:p.T124A

Associated Papers

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Li WB et al.

Frontiers in Aging Neuroscience, 2022

35462688 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.

Woltjer RL et al.

Molecular Genetics and Metabolism, 2015

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.

Kruer MC et al.

Brain : a Journal of Neurology, 2011

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Egan RA et al.

American Journal of Ophthalmology, 2005

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."