Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.L121Q
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C19orf12

NM_031448.6:p.L121Q

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

Mitochondrial Membrane Protein-Associated Neurodegeneration.

Yilmaz S et al.

Pediatric Neurology, 2015

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O et al.

Clinical Genetics, 2013

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Schulte EC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA et al.

Current Neuropharmacology, 2013

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

Horvath R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.

Incecik F et al.

Annals of Indian Academy of Neurology, 0

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