Varaico: Literature-Extracted Genetic Variants

Gene:BCKDK
Variant:p.G365Splc
Back to variants list

BCKDK

NM_005881.4:p.G365Splc

Associated Papers

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Cheon S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."