Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.N355S
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PANK2

NM_153638.4:p.N355S

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: Data_Sheet_1.PDF

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.

Lee CH et al.

Thescientificworldjournal, 2013

Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.

Yamashita S et al.

Journal of the Neurological Sciences, 2004

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.

Molinuevo JL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2003

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

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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."