Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I501N
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PANK2

NM_153638.4:p.I501N

Associated Papers

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD.

Dong S et al.

Frontiers in Neurology, 2023

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

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.

Pan S et al.

Neurocase, 2020

Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.

Zhang Y et al.

Medicine, 2019

Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.

Lim BC et al.

European Journal of Neurology, 2012

Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.

Kim SH et al.

Journal of Movement Disorders, 2009

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.

Zhang YH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].

Zhang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

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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."