Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-11-01
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Series: | Genome Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13073-023-01258-4 |