Associated Papers
Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation.
Choochuen P et al.
Scientific Reports, 2025
41034313 (PubMed )
Supplement: 41598_2025_15066_MOESM3_ESM.xlsx › Supplementary_data_S2
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
Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.
Özoğul E et al.
Blood Cancer Journal, 2024
39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S17
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
37250922 (PubMed )
Supplement: mmc6.pdf
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Tamaoka S et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2023
Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.
Tamura R et al.
Cancer Science, 2023
36762791 (PubMed )
Supplement: CAS-114-2145-s001.xlsx › Table_S6
Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population.
Geng Z et al.
Frontiers in Genetics, 2023
38164514 (PubMed )
Supplement: Table2.XLSX › results
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
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