Varaico: Literature-Extracted Genetic Variants

Gene:MMP16
Variant:p.Y172C
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MMP16

NM_005941.5:p.Y172C

Associated Papers

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

Lin RJ et al.

American Journal of Ophthalmology, 2006

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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."