Varaico: Literature-Extracted Genetic Variants

Gene:MMP14
Variant:p.S466P
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MMP14

NM_004995.4:p.S466P

Associated Papers

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.

de Vos IJHM et al.

American Journal of Medical Genetics. Part A, 2019

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

de Vos IJHM et al.

Human Molecular Genetics, 2018

Tracking the Cartoon mouse phenotype: Hemopexin domain-dependent regulation of MT1-MMP pericellular collagenolytic activity.

Sakr M et al.

The Journal of Biological Chemistry, 2018

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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."