Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L270P
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PANK2

NM_153638.4:p.L270P

Associated Papers

Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.

Saini A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.

Sakpichaisakul K et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019

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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."