首页/数据集/Demographics by MRE11 Status (dMRE11 vs. pMRE11).

Demographics by MRE11 Status (dMRE11 vs. pMRE11).

NIAID Data Ecosystem2026-03-09 收录

基因型-表型关联

DNA损伤修复

数据链接：

https://figshare.com/articles/dataset/_Demographics_by_MRE11_Status_dMRE11_vs_pMRE11_/1202599 数据链接链接失效反馈

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资源简介：

1chi-squared test. 2Wilcoxon Rank-Sum test. Demographics by MRE11 Status (dMRE11 vs. pMRE11).

应用场景：

创建时间：

2014-10-13

DNA损伤修复

抗癌药物设计

Homologous recombination repair (HRR), a crucial approach in DNA damage repair, is an attractive target in cancer therapy and drug design. The Bloom syndrome protein (BLM) is a 3′–5′ DNA helicase that

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Additional file 1 of Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

遗传性听力损失

基因型-表型关联

Additional file 1 Table S1 List of the 168 deafness genes and miRNA.

Figshare2024-02-06 更新20

Supplementary Material for: Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

环状染色体6

基因型-表型关联

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost nor

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Segregation analysis of heterozygous rupo+/- mutant.

突变体分析

基因型-表型关联

Segregation analysis of heterozygous rupo+/- mutant.

Figshare2016-07-26 更新30

Family history of our cohort.

结肠直肠癌

基因型-表型关联

Pathogenic FLCN variant and clinical phenotype for each individual included in the study. FH: Family history, CRC: Colorectal cancer. (XLSX)

Figshare2022-02-17 更新10