Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.L80L
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C19orf12

NM_031448.6:p.L80L

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

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Kolarova H et al.

Ebiomedicine, 2022

35180557 (PubMed )
Supplement: mmc3.xlsx › List1

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Yang Y et al.

Frontiers in Genetics, 2022

A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

Fraser S et al.

Molecular Genetics & Genomic Medicine, 2021

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

Gregory A et al.

Molecular Genetics & Genomic Medicine, 2019

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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."