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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMP2

Variant:p.L10H

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MMP2

NM_004530.6:p.L10H

hg38:chr16:55479508 T>A

Associated Papers

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.

Betts JHJ et al.

Molecular Vision, 2024

38601018 (PubMed )

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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."