Associated Papers
Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.
Wu Y et al.
Gene, 2026
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Y-01A.domain
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Mirzaa GM et al.
Human Genetics, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
24490137 (PubMed )
Supplement: mmc5.xlsx › coding
Computational screening and molecular dynamics simulation of disease associated nsSNPs in CENP-E.
Kumar A et al.
Mutation Research, 0
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