Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.Q63R
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C6

NM_000065.5:p.Q63R

Associated Papers

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Brewer MK et al.

Iscience, 2021

Structural and biochemical studies of GH family 12 cellulases: improved thermal stability, and ligand complexes.

Sandgren M et al.

Progress in Biophysics and Molecular Biology, 2005

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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."