Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.P82insFs
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C19orf12

NM_031448.6:p.P82insFs

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

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Iankova V et al.

Brain : a Journal of Neurology, 2024

37831662 (PubMed )
Supplement: awad357_supplementary_data.pdf
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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."