Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.Y139C
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C19orf12

NM_031448.6:p.Y139C

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

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

Wang ZB et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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."