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148 积分 2025-11-26 加入
Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review
1个月前
已完结
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
1个月前
已完结
Clinical Feasibility of Long‐Read WGS for DNA Methylation Signature Analysis
2个月前
已完结
ACAN Repeat Number Polymorphism in Patients with Idiopathic Short Stature
3个月前
已完结
Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis
5个月前
已完结
AlphaGenome-enabled analysis of non-coding regulatory variants underlying RHD expression with wet-lab validation
5个月前
已完结
CSV-Filter: a deep learning-based comprehensive structural variant filtering method for both short and long reads
5个月前
已完结
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual
6个月前
已完结
A novel RHCE*02 variant with a recombination of RHD exon 3 in a Chinese D+ voluntary blood donor with weak expression of e antigen
7个月前
已完结
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting
7个月前
已完结
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