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
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C et al.
Human Molecular Genetics, 2018
29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
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