Associated Papers
Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.
Jeon H et al.
Plos One, 2025
40408428 (PubMed )
Supplement: pone.0323302.s003.xlsx › Sheet1
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: Table2.XLSX › Sheet1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 2021
33951346 (PubMed )
Supplement: MGG3-9-e1689-s001.xls › Suppl._Table_4
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.
Yamada Y et al.
Biomedical Reports, 2018
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