Lv1
68 积分 2023-11-27 加入
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
27天前
已完结
Genomic Variant Annotation: A Comprehensive Review of Tools and Techniques
1个月前
已完结
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
1个月前
已完结
[Clinical management guideline for 21-hydroxylase deficiency(2026)]
2个月前
已完结
先天性肾上腺皮质增生症的全生命周期临床管理
2个月前
已完结
A novel rearrangement of the α-globin gene cluster containing both the −α3.7 and ααααanti4.2 crossover junctions in a Chinese family
3个月前
已完结
The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing
5个月前
已完结
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
7个月前
已完结
Screening and treatment of thalassemia
7个月前
已完结
Het2Gene: a phenotype-driven model for gene prioritization by heterogeneous graph embedding
7个月前
已完结
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