Varaico: Literature-Extracted Genetic Variants

Gene:EOGT
Variant:p.K188*
Back to variants list

EOGT

NM_001278689.2:p.K188*

Associated Papers

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration.

Moll T et al.

Brain : a Journal of Neurology, 2020

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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."