D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
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Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13.
Hum Mutat. 2019.
PMID: 30908763
Free PMC article.