Varaico: Literature-Extracted Genetic Variants

Gene:PDIA2
Variant:p.V221delFs
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PDIA2

NM_006849.4:p.V221delFs

Associated Papers

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

Dierks T et al.

Cell, 2003

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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."