Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.R56fs
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MPI

NM_002435.3:p.R56fs

Associated Papers

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Medrano C et al.

Clinical Genetics, 2019

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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."