Associated Papers
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
38781976 (PubMed )
Supplement: mmc2.xlsx › Data
Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA.
Rohwer JM et al.
International Journal of Molecular Sciences, 2021
33803916 (PubMed )
Supplement: ijms-22-03129-s001.zip › Supplementary_files › Suppl_Table_1._gnomAD_v2.1.1_ENST00000344743_2020_09_08_13_34_13_edited.xlsx › gnomAD_v2.1.1_ENST00000344743_2
Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway.
van der Sluis R et al.
Gene, 2015
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