Associated Papers
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM et al.
Wellcome Open Research, 2023
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST20
The trans-ancestral genomic architecture of glycemic traits.
Chen J et al.
Nature Genetics, 2021
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.
Yamada Y et al.
Human Mutation, 2001
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 2000
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 1998
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