Varaico: Literature-Extracted Genetic Variants

Gene:MMP19
Variant:p.Y37_L38insFs
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MMP19

NM_002429.6:p.Y37_L38insFs

Associated Papers

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.

Hazlewood RJ et al.

Human Mutation, 2015

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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."