Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N417D
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ALPL

NM_000478.6:p.N417D

Associated Papers

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.

Sultana S et al.

Molecular Genetics and Metabolism, 2013

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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."