Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A83V
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C19orf12

NM_031448.6:p.A83V

Associated Papers

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

Gnutti B et al.

Brain Sciences, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG43

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

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gregory A et al.

Molecular Genetics & Genomic Medicine, 2019

Behr syndrome with homozygous C19ORF12 mutation.

Kleffner I et al.

Journal of the Neurological Sciences, 2015

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi M et al.

Parkinsonism & Related Disorders, 2015

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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."