Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.Q77fs
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TTC19

NM_017775.4:p.Q77fs

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

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

Xuan X et al.

Cns Neuroscience & Therapeutics, 2024

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

Melchionda L et al.

Frontiers in Genetics, 2014

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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."