Lv7
4890 积分 2021-06-23 加入
ISCN 2024
4个月前
已关闭
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
4个月前
已完结
Critical prenatal diagnosis and management of incidental exon 43–44 deletion in the dystrophin gene
4个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
5个月前
已完结
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
5个月前
已完结
Toward trustable use of machine learning models of variant effects in the clinic
5个月前
已完结
Rare coding variant analysis for human diseases across biobanks and ancestries
5个月前
已完结
A scalable artificial intelligence platform that automatically finds copy number variations (CNVs) in journal articles and transforms them into a database: CNV extraction, transformation, and loading AI (CNV-ETLAI)
8个月前
已完结
A genomic mutational constraint map using variation in 76,156 human genomes
8个月前
已完结
An expanded genomic database for identifying disease-related variants
8个月前
已完结
Principles of Inorganic Chemistry, 2nd Edition
Introduction to Mesoscopic Physics (Second Edition)
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