Associated Papers
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP et al.
Human Molecular Genetics, 2024
37944084 (PubMed )
Supplement: grid_variants_supplemental_revised_10-26-2023_final_rev_ddad188.pdf
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan R et al.
Scientific Reports, 2020
32066793 (PubMed )
Supplement: 41598_2020_59379_MOESM2_ESM.xlsx › Supp.Table_1_denovo_variants
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