Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.A505E
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PANK2

NM_153638.4:p.A505E

Associated Papers

Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.

Wang ZB et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.

Matarin MM et al.

Neuroscience Letters, 2006

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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."