Associated Papers
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
36818284 (PubMed )
Supplement: mmc2.xlsx › HS-PSS
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Homozygotes
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