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Paper Details

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
0
2023
-, -ketoglutarate dehydrogenase complex, DHTKD1 isoenzymes, Human, Human cDNA, Mendelian gene, OGDH, OGDHL, OGDHL variants, OGDHL-related disorders, biallelic, dhtkd1, hypomorphic alleles, ketoglutarate, loss-of-function variant, monogenic disorder, neurodevelopmental disorders, neurological and neurodevelopmental disorders, ogdh paralogs, ogdhl, patient, patient variant, patient variant transcripts, recessive disorder, zebrafish
Author NameAffiliation
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Wendy K ChungBoston Children's Hospitaland, Harvard Medical School
Wendy K ChungBoston Children's Hospitaland, Harvard Medical School
Henry HouldenQueen Square Institute of Neurology, University College London
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