Associated Papers
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
Klar J et al.
Bmc Medical Genomics, 2020
32586322 (PubMed )
Supplement: 12920_2020_737_MOESM2_ESM.xls › Additional_File_2
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_MOESM10_ESM.xls › 247_Genes_LOF
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