Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P292P
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ALPL

NM_000478.6:p.P292P

Associated Papers

[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

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

Wyckoff MH et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E et al.

European Journal of Human Genetics : Ejhg, 0

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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."