Associated Papers
Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.
Caro-Consuegra R et al.
Molecular Biology and Evolution, 2022
35860855 (PubMed )
Supplement: msac158_supplementary_data.zip › SuppTableS14.xlsx › Highlands_ihs_annotated_withpro
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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