Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.V114M
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TPP1

NM_000391.4:p.V114M

Associated Papers

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Almeida LS et al.

European Journal of Human Genetics : Ejhg, 2022

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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."