Lv4
440 积分 2023-06-20 加入
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects
4天前
已完结
Paralogous annotation of disease-causing variants in long QT syndrome genes
4天前
已完结
Gene symbol: SCN5A
4天前
求助中
Single amino acid substitutions in conserved extracellular domains of E-cadherin differ in their functional consequences
11天前
已完结
A case report of classic galactosemia with a GALT gene variant and a literature review
12天前
已完结
Molecular findings in children with inherited intrahepatic cholestasis
12天前
已完结
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
12天前
已完结
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs
17天前
已关闭
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions
17天前
已完结
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
17天前
已关闭
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