Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.P54fs
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TTC19

NM_017775.4:p.P54fs

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

Autosomal recessive spinocerebellar ataxias in Japan.

Tanaka F et al.

Rinsho Shinkeigaku = Clinical Neurology, 2016

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

[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].

Aoki K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2001

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."