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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:D2HGDH

Variant:p.K380_M381Splc

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D2HGDH

NM_152783.5:p.K380_M381Splc

hg38:chr2:241751396 G>A

Associated Papers

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )

Supplement: 13059_2016_1102_MOESM6_ESM.pdf

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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."