Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.Q232R
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PANK1

NM_148977.3:p.Q232R

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

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.

Christou YP et al.

Case Reports in Neurological Medicine, 2017

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

Tanteles GA et al.

Journal of the Neurological Sciences, 2014

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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."