Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.P52delFs
Back to variants list

C2

NM_000063.6:p.P52delFs

Associated Papers

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Schlotawa L et al.

European Journal of Human Genetics : Ejhg, 2013

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."