Lv4
445 积分 2021-04-08 加入
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
16小时前
待确认
Tatton‐Brown‐Rahman syndrome: Six individuals with novel features
16小时前
已完结
Mutually exclusive BCOR internal tandem duplications and YWHAE‐NUTM2 fusions in clear cell sarcoma of kidney: not the full story
2个月前
已完结
SSLCNV: A Semi-supervised Learning Framework for Accurate Copy Number Variation Detection
4个月前
已完结
Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes
4个月前
已完结
Calibration of variant effect predictors for in-frame indels for clinical variant classification
4个月前
已完结
Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: Report of the BIOMED-2 Concerted Action BMH4-CT98-3936
5个月前
已完结
Using large-scale population-based data to improve disease risk assessment of clinical variants
6个月前
已完结
Machine Learning Allows the Identification of New Co-Mutational Patterns with Prognostic Implications in NPM1 Mutated AML - Results of the European Harmony Alliance
6个月前
已关闭
HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline
7个月前
已完结
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