Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.K38N
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ALPL

NM_000478.6:p.K38N

Associated Papers

Genetic analysis of adults heterozygous for ALPL mutations.

Taillandier A et al.

Journal of Bone and Mineral Metabolism, 2018

Pathophysiology of hypophosphatasia and the potential role of asfotase alfa.

Orimo H

Therapeutics and Clinical Risk Management, 2016

[Molecular basis of hypophosphatasia].

Oda K

Seikagaku. the Journal of Japanese Biochemical Society, 2008

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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."