Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.A153T
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GPD1

NM_005276.4:p.A153T

Associated Papers

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Čechová A et al.

Journal of Inherited Metabolic Disease, 2020

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

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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."