Varaico: Literature-Extracted Genetic Variants

Gene:ASRGL1
Variant:p.E137Q
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ASRGL1

NM_001083926.2:p.E137Q

Associated Papers

[Molecular basis of hypophosphatasia].

Oda K

Seikagaku. the Journal of Japanese Biochemical Society, 2008

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Michigami T et al.

European Journal of Pediatrics, 2005

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.

Mochizuki H et al.

European Journal of Pediatrics, 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."