Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.L185P
Back to variants list

SLC37A4

NM_001164277.2:p.L185P

Associated Papers

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.

Lin SR et al.

Molecular Genetics and Metabolism, 2015

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

Hayee B et al.

Glycobiology, 2011

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."