Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I501T
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PANK2

NM_153638.4:p.I501T

Associated Papers

Missense variants in PKAN: insights from a multi-patient genetic analysis.

Kılıç M et al.

Neurogenetics, 2025

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

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

Li WB et al.

Frontiers in Aging Neuroscience, 2022

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

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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."