Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.H253delFs
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TPP1

NM_000391.4:p.H253delFs

Associated Papers

First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.

Wawrzynski J et al.

Eye (london, England), 2024

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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."