Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G55W
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C19orf12

NM_031448.6:p.G55W

Associated Papers

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

Gnutti B et al.

Brain Sciences, 2025

Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) - Case Report and a Brief Review of Indian Literature on MPAN.

Saibaba J et al.

Annals of Indian Academy of Neurology, 2025

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Bhardwaj NK et al.

Brain & Development, 2021

Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.

Gowda VK et al.

Indian Journal of Pediatrics, 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."