Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G171R
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TPP1

NM_000391.4:p.G171R

Associated Papers

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.

Iwan K et al.

F1000research, 2021

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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."