Varaico: Literature-Extracted Genetic Variants

Gene:SORBS1
Variant:p.K63R
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SORBS1

NM_001034954.3:p.K63R

Associated Papers

Insights into the mechanism of deubiquitination by JAMM deubiquitinases from cocrystal structures of the enzyme with the substrate and product.

Shrestha RK et al.

Biochemistry, 2014

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM et al.

Nature Genetics, 2013

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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."