Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.F519L
Back to variants list

PANK2

NM_153638.4:p.F519L

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

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

Pan S et al.

Neurocase, 2020

A novel PANK2 mutation in a 12-year-old Chinese boy with pantothenate kinase-associated neurodegeneration.

Pan LS et al.

Neurology India, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."