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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OGA

Variant:p.E518delFs

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OGA

NM_012215.5:p.E518delFs

hg38:chr10:101799098 TC>T

Associated Papers

Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

Aryan H et al.

Iranian Journal of Public Health, 2012

23113155 (PubMed )

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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."