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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GOT2

Variant:p.R68_D69insFs

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GOT2

NM_002080.4:p.R68_D69insFs

hg38:chr16:58723785 A>ATCCC

Associated Papers

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM et al.

American Journal of Human Genetics, 2019

31422819 (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."