Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.Q277_T278Splc
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TTC19

NM_017775.4:p.Q277_T278Splc

Associated Papers

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

Farsana MK et al.

Neurology India, 2025

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation.

Mahale RR et al.

Annals of Indian Academy of Neurology, 0

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