Varaico: Literature-Extracted Genetic Variants

Gene:SERPINE1
Variant:p.Q78L
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SERPINE1

NM_000602.5:p.Q78L

Associated Papers

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S et al.

American Journal of Human Genetics, 2001

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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."