Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K54*
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SDS

NM_006843.3:p.K54*

Associated Papers

The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants.

Petrosino M et al.

Human Genomics, 2023

Kinetic characterization of hypophosphatasia mutations with physiological substrates.

Di Mauro S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

Orimo H et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001

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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."