Associated Papers
The induced-fit and catalytic mechanisms of human G6PC1.
Chen Q et al.
Cell Discovery, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.
Miao H et al.
Hereditas, 2018
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