Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L324P
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TTC19

NM_017775.4:p.L324P

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

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 disease and epilepsy in children.

Zhang X et al.

Frontiers in Neurology, 2024

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

Habibzadeh P et al.

Frontiers in Neurology, 2019

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.

Koch J et al.

Orphanet Journal of Rare Diseases, 2015

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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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."