Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E237E
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ALPL

NM_000478.6:p.E237E

Associated Papers

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

Shibata H et al.

Journal of Biochemistry, 1998

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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."