Varaico: Literature-Extracted Genetic Variants

Gene:GLS
Variant:p.K245_V246Splc
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GLS

NM_014905.5:p.K245_V246Splc

Associated Papers

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E et al.

Human Mutation, 2000

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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."