Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.S361Splc
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PANK2

NM_001386393.1:p.S361Splc

Associated Papers

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.

Tao Y et al.

Frontiers in Neurology, 2023

37188304 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Pallidal degenerations and related disorders: an update.

Jellinger KA

Journal of Neural Transmission (vienna, Austria : 1996), 2022

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

A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome.

Ley Martos M et al.

Journal of Movement Disorders, 2020

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

Egan RA et al.

American Journal of Ophthalmology, 2005

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

Houlden H et al.

Neurology, 2003

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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."