Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.Q277*
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TTC19

NM_017775.4:p.Q277*

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

A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.

Xuan X et al.

Cns Neuroscience & Therapeutics, 2024

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.

Habibzadeh P et al.

Frontiers in Neurology, 2019

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Kunii M et al.

Journal of Human Genetics, 2015

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Ardissone A et al.

Jimd Reports, 2015

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Fernández-Vizarra E et al.

Frontiers in Genetics, 2015

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.

Morino H et al.

Bmc Neurology, 2014

[Complex III deficiency due to mutations in the cytochrome b gene].

Ishii A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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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