Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L321_S322delFs
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TTC19

NM_017775.4:p.L321_S322delFs

Associated Papers

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 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

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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."