Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L172_R176delFs
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PANK2

NM_001386393.1:p.L172_R176delFs

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

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

Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report.

Li J et al.

Parkinsonism & Related Disorders, 2021

MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients.

Hájek M et al.

European Radiology, 2005

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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."