Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.T66_S67del1
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C19orf12

NM_031448.6:p.T66_S67del1

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

The clinical syndrome of dystonia with anarthria/aphonia.

Ganos C et al.

Parkinsonism & Related Disorders, 2016

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G et al.

Human Mutation, 2013

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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."