Varaico: Literature-Extracted Genetic Variants

Gene:PMM1
Variant:p.R9H
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PMM1

NM_002676.3:p.R9H

Associated Papers

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Erlandson A et al.

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."