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资源简介：
Exome sequencing for a Chinese girl with KBG syndrome
应用场景：
创建时间：
2021-02-19
相关数据集
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Additional file 2: Table S2. The captured DNA probes of the PCCA and PCCB target region.
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Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients suffering from primary immunodeficiencies. (XLSX 11 kb)
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Additional file 4 of Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance
Additional file 4. Supplementary file 1: 1.exonic_variant_function, Supplementary File 2: 6.exonic_variant_function, Supplementary File 3: 19.exonic_variant_function, Supplementary File 4: 21.exonic_v
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PhEval: A Framework for Evaluating Phenotype-Driven Variant and Gene Prioritisation Algorithms
This repository contains the complete corpora and PhEval processed TSV results referenced in the study "PhEval: A Framework for Evaluating Phenotype-Driven Variant and Gene Prioritisation Algorithms".
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