Varaico: Literature-Extracted Genetic Variants

Gene:SH3YL1
Variant:p.E174K
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SH3YL1

NM_015677.4:p.E174K

Associated Papers

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization.

Mornet E et al.

The Journal of Biological Chemistry, 2001

Correlations of genotype and phenotype in hypophosphatasia.

Zurutuza L et al.

Human Molecular Genetics, 1999

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E et al.

European Journal of Human Genetics : Ejhg, 0

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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."