Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.
Snezhkina AV et al.
International Journal of Molecular Sciences, 2024
39684472 (PubMed )
Supplement: ijms-25-12762-s001.zip › Supplementary_Table_S2.xlsx › Gene_variants
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ et al.
Genome Medicine, 2023
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY et al.
American Journal of Human Genetics, 2021
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