Varaico: Literature-Extracted Genetic Variants

Gene:PMM1
Variant:p.G176V
Back to variants list

PMM1

NM_002676.3:p.G176V

Associated Papers

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI et al.

Journal of Inherited Metabolic Disease, 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."