Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P519T
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ALPL

NM_000478.6:p.P519T

Associated Papers

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 2020

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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."