Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.P177_Y178Fs
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L2HGDH

NM_024884.3:p.P177_Y178Fs

Associated Papers

[L-2-hydroxyglutaric aciduria: report on two cases].

Wagner S et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014

Progress in understanding 2-hydroxyglutaric acidurias.

Kranendijk M et al.

Journal of Inherited Metabolic Disease, 2012

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME et al.

Human Mutation, 2010

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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."