Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.S130delFs
Back to variants list

PMM2

NM_000303.3:p.S130delFs

Associated Papers

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E et al.

European Journal of Human Genetics : Ejhg, 2002

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Edmondson AC et al.

Molecular Genetics and Metabolism, 0

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."