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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMP2

Variant:p.Q219delFs

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MMP2

NM_004530.6:p.Q219delFs

hg38:chr16:55485424 CA>C

Associated Papers

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS et al.

Human Mutation, 2010

19877282 (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."