Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.I215V
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ALPL

NM_000478.6:p.I215V

Associated Papers

Hypoalkaline Phosphatemia Dental Type: A Case Report.

Liu W et al.

Clinical Medicine Insights. Pediatrics, 2024

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

Xiao F et al.

Plos Computational Biology, 2022

35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1

Genetic analysis of adults heterozygous for ALPL mutations.

Taillandier A et al.

Journal of Bone and Mineral Metabolism, 2018

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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."