Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E135K
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ALPL

NM_000478.6:p.E135K

Associated Papers

A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.

Makita S et al.

The Febs Journal, 2012

[Molecular basis of hypophosphatasia].

Oda K

Seikagaku. the Journal of Japanese Biochemical Society, 2008

Hypophosphatasia.

Mornet E

Orphanet Journal of Rare Diseases, 2007

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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."