Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.N534K
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OGA

NM_012215.5:p.N534K

Associated Papers

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Tavasoli AR et al.

Orphanet Journal of Rare Diseases, 2018

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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."