Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.Q198_A199insFs
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MEFV

NM_000243.3:p.Q198_A199insFs

Associated Papers

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Lefèvre C et al.

American Journal of Human Genetics, 2001

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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."