Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.L99fs
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C19orf12

NM_031448.6:p.L99fs

Associated Papers

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

Gnutti B et al.

Brain Sciences, 2025

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.

Zanuttigh E et al.

Pharmaceutics, 2023

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

Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.

Wang ZB et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

Monfrini E et al.

Parkinsonism & Related Disorders, 2018

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Panteghini C et al.

Seminars in Pediatric Neurology, 2012

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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."