Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.H283Q
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PANK2

NM_153638.4:p.H283Q

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

Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

Chang X et al.

Cns Neuroscience & Therapeutics, 2020

Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.

Siudeja K et al.

Embo Molecular Medicine, 2011

21998097 (PubMed )
Supplement: emmm0003-0755-SD1.pdf

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

Kruer MC et al.

Brain : a Journal of Neurology, 2011

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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."