Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.L377P
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PANK1

NM_148977.3:p.L377P

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

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

Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.

Yuan J et al.

Neurology India, 0

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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."