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Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

ChEBI2014-11-25 更新2026-07-21 收录

基因组结构变异

神经遗传疾病

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https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-63594 数据链接链接失效反馈

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Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

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创建时间：

2014-11-25

基因组结构变异

比较基因组学

Each number represents an LCB calculated by MAUVE between CA88 and CO92. Changes between steps are underlined. Negative numbers represent an inverted LCB.

Figshare2015-12-02 更新30

POLQ mediates replication-stress induced structural variant formation throughout common fragile sites during mitosis

基因组结构变异

DNA复制应激

Larger processed svCapture data files related to the linked publication. Two types of files are provided: 1) Data packages, ending in .mdi.package.zip = processed data files that can be loaded by th

Zenodo2024-10-11 更新20

Additional file 2 of Genome landscape and genetic architecture of recombination in domestic goats (Capra hircus)

比较基因组学

基因组结构变异

Additional file 2: Table S1. SNPs within synteny breakpoints. File listing all 123 SNPs removed from dataset after identifying synteny breakpoints with human genome on ARS1 assembly.

NIAID Data Ecosystem20

Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia

神经遗传疾病

FTD额颞叶痴呆

Objective: Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)

NIAID Data Ecosystem30

Supplementary Material for: Molecular evolution of the human chromosome 15 pericentromeric region

基因组结构变异

染色体进化分析

We present a detailed molecular evolutionary analysis of 1.2 Mb from the pericentromeric region of human 15q11. Sequence analysis indicates the region has been subject to extensive interchromosomal an

NIAID Data Ecosystem20

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

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