Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G54fs
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C19orf12

NM_031448.6:p.G54fs

Associated Papers

Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.

Skowrońska M et al.

Cells, 2025

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.

Gnutti B et al.

Brain Sciences, 2025

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

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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."