Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I501_G502insFs
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PANK2

NM_153638.4:p.I501_G502insFs

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

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.

Brezavar D et al.

Molecular Genetics and Metabolism, 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."