Associated Papers
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2025
41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf
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 NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Genetic Variants of Adrenoceptors.
Ahles A et al.
Handbook of Experimental Pharmacology, 2024
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
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
Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review.
Hu J et al.
Frontiers in Genetics, 2022
36685832 (PubMed )
Supplement: Table4.XLSX › Family_2
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM8_ESM.xlsx › GBC_Cell_LIne_Mutations
Polymorphic variants of adrenoceptors: pharmacology, physiology, and role in disease.
Ahles A et al.
Pharmacological Reviews, 2014
Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Kulle B et al.
Human Mutation, 2005
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