Associated Papers
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
Schulke D et al.
Biochimie, 2021
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
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Glycine conjugation: importance in metabolism, the role of glycine N-acyltransferase, and factors that influence interindividual variation.
Badenhorst CP et al.
Expert Opinion on Drug Metabolism & Toxicology, 2013
Characterisation of the influence of genetic variations on the enzyme activity of a recombinant human glycine N-acyltransferase.
van der Sluis R et al.
Gene, 2013
Genetic polymorphisms of glycine N-acyltransferase (GLYAT) in a French Caucasian population.
Lino Cardenas CL et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2010
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