Varaico: Literature-Extracted Genetic Variants

Gene:HORMAD2
Variant:p.C90Y
Back to variants list

HORMAD2

NM_152510.4:p.C90Y

Associated Papers

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H et al.

Nature Communications, 2020

32001716 (PubMed )
Supplement: 41467_2020_14360_MOESM1_ESM.pdf
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."