Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.A116T
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ALB

NM_000477.7:p.A116T

Associated Papers

Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function.

Chen C et al.

Thrombosis and Haemostasis, 2017

Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.

Ishida Y et al.

Biochimica Et Biophysica Acta, 2011

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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."