Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.D210Y
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MMP2

NM_004530.6:p.D210Y

Associated Papers

Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.

Al-Aqeel AI

Saudi Medical Journal, 2005

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.

Martignetti JA et al.

Nature Genetics, 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."