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simulated SLC22A5 gene missense variants and classified pathogenic variants
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孙浏创建时间：
2024-05-29
相关数据集
ADVISER Class Performance.
SG-ADVISER Classification performance. The Ingenuity Clinical Assessment considers variants classified as Known Pathogenic or Likely Pathogenic by Ingenuity. The default Ingenuity allele frequency thr
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Additional file 1: of Comparative genomics of 84 Pectobacterium genomes reveals the variations related to a pathogenic lifestyle
Table S1. The biochemical characters and pathogenicity of 32 Chinese Pectobacterium carotovorum strains. Table S2. Selected phenotypic characteristics of Pectobacterium carotovorum subsp. brasiliense,
NIAID Data Ecosystem60
Additional file 5: Table S4. of Medical implications of technical accuracy in genome sequencing
A listing of pathogenic variants from ClinVar present in ExAC. (TXT 602 kb)
Figshare2016-12-15 更新30
A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes
The first Swiss human embryonic stem cell (hESC) line, CH-ES1, has shown features of a malignant cell line. It originated from the only single blastomere that survived cryopreservation of an embryo, a
NIAID Data Ecosystem70
Table_2_Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.xlsx
Objective: We aimed to improve the classification of SCN1A missense variants in patients with Dravet syndrome (DS) by combining and modifying the current variants classification criteria to minimize i
NIAID Data Ecosystem50
