Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G220R
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ALPL

NM_000478.6:p.G220R

Associated Papers

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

Xiao F et al.

Plos Computational Biology, 2022

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Whyte MP et al.

Bone, 2015

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Whyte MP et al.

The New England Journal of Medicine, 2012

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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."