Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G59insFs
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C19orf12

NM_031448.6:p.G59insFs

Associated Papers

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

Gnutti B et al.

Brain Sciences, 2025

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.

Dusek P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.

Schottmann G et al.

Clinical Genetics, 2014

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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."