Varaico: Literature-Extracted Genetic Variants

Gene:MMP9
Variant:p.S149N
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MMP9

NM_004994.3:p.S149N

Associated Papers

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Boyden ED et al.

American Journal of Human Genetics, 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."