Associated Papers
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
37640745 (PubMed )
Supplement: 41598_2023_41008_MOESM3_ESM.pdf
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Spadafora P et al.
International Journal of Molecular Sciences, 2022
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
Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.
Shrestha R et al.
Cancer Research, 2021
33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf
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
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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