Associated Papers
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
de la Morena-Barrio ME et al.
Molecular Genetics & Genomic Medicine, 2020
32530140 (PubMed )
Supplement: MGG3-8-e1304-s002.xlsx › Hoja1
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
30061496 (PubMed )
Supplement: ijms-19-02218-s001.zip › supplementary_file_3.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-A2-A04Y-01A.domain
Large-scale profiling and identification of potential regulatory mechanisms for allelic gene expression in colorectal cancer cells.
Lee RD et al.
Gene, 2013
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R et al.
Annals of Neurology, 2012
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J et al.
Pediatric Research, 2006
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Kim S et al.
The Journal of Clinical Investigation, 2000
Select a paper to view details