Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N140D
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ALPL

NM_000478.6:p.N140D

Associated Papers

Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.

Komaru K et al.

The Febs Journal, 2016

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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."