Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E452E
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ALPL

NM_000478.6:p.E452E

Associated Papers

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Kishnani PS et al.

American Journal of Medical Genetics. Part A, 2024

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Zhao Z et al.

Zhonghua Nei Ke Za Zhi, 2013

Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.

Zhu T et al.

The Chinese Journal of Dental Research, 2012

Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

Stoll C et al.

Genetic Counseling (geneva, Switzerland), 2002

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

Mornet E

Human Mutation, 2000

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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."