Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.Q68_L72delFs
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PANK1

NM_148977.3:p.Q68_L72delFs

Associated Papers

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).

Wydrych A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

Skowronska M et al.

Clinical Neuroradiology, 2018

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Skowronska M et al.

Parkinsonism & Related Disorders, 2017

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

Langwinska-Wosko E et al.

Journal of the Neurological Sciences, 2016

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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."