Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL5
Variant:p.I240K
Back to variants list

ST3GAL5

NM_003896.4:p.I240K

Associated Papers

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Dang Do AN et al.

Journal of Inherited Metabolic Disease, 2023

Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Kelly JP et al.

Investigative Ophthalmology & Visual Science, 2021

33984120 (PubMed )
Supplement: iovs-62-6-15_s003.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."