Associated Papers
A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.
Yang B et al.
Frontiers in Neurology, 2026
41725728 (PubMed )
Supplement: Table_1.xlsx › Variants_in_III-2
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S5
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