Varaico: Literature-Extracted Genetic Variants

Gene:PLAA
Variant:p.C183S
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PLAA

NM_001031689.3:p.C183S

Associated Papers

Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.

Satou Y et al.

Biochimica Et Biophysica Acta, 2012

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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."