Varaico: Literature-Extracted Genetic Variants

Gene:PEX16
Variant:p.R287H
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PEX16

NM_004813.4:p.R287H

Associated Papers

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Cheung A et al.

Neurogenetics, 2022

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Chen YJ et al.

Parkinsonism & Related Disorders, 2019

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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."