Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D406N
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ALPL

NM_000478.6:p.D406N

Associated Papers

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Glotov OS et al.

International Journal of Molecular Sciences, 2022

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3

Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

Silvent J et al.

The Journal of Biological Chemistry, 2014

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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."