Associated Papers
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E et al.
Acta Neuropathologica, 2020
31820119 (PubMed )
Supplement: 401_2019_2109_MOESM8_ESM.xlsx › Supplemental_Table_5_gnomAD_v2.
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.
Wang J et al.
Frontiers in Pediatrics, 2020
33344382 (PubMed )
Supplement: Table_2.XLSX › Result
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