Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.E512_N513Splc
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PANK2

NM_153638.4:p.E512_N513Splc

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

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.

Akcakaya NH et al.

Clinical Neurology and Neurosurgery, 2017

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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."