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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:D2HGDH

Variant:p.R419L

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D2HGDH

NM_152783.5:p.R419L

hg38:chr2:241755964 G>T

Associated Papers

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

Perales-Clemente E et al.

Jimd Reports, 2021

33728243 (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."