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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS5

Variant:p.L692L

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ADAMTS5

NM_007038.5:p.L692L

hg38:chr21:26930037 G>A

Associated Papers

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.

Levy GG et al.

Nature, 2001

11586351 (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."