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220 积分
2023-09-24 加入
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In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2
1天前
待确认
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
14天前
已完结
SWI/SNF COMPLEX-DEFICIENT UNDIFFERENTIATED CARCINOMA OF THE PANCREAS:CLINICOPATHOLOGIC AND GENOMIC ANALYSIS
1个月前
已关闭
Transient immune deficiency accompanied with homozygous CBL rare variant
5个月前
已完结
Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors
6个月前
已完结
P754: PRIME EDITING AS A NOVEL TOOL FOR PRECISE CORRECTION OF CAUSAL MUTATIONS IN FANCONI ANAEMIA GROUP A PATIENT-DERIVED CELLS
8个月前
已完结
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
8个月前
已完结
[Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome]
8个月前
已完结
A Frequent Large Rearrangement in theCFTRGene in Cystic Fibrosis Patients from Reunion Island
9个月前
已完结
New insights into the clinical characteristics of SETD2‐mutated acute myeloid leukaemia
9个月前
已完结
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