Varaico: Literature-Extracted Genetic Variants

Gene:BCKDK
Variant:p.R224P
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BCKDK

NM_005881.4:p.R224P

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G et al.

Science (new York, N.y.), 2012

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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."