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Updated: Jun 7, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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BRCAIndica:为ACMG/AMP分类的BRCA1和BRCA2变体提供了一个资源

Aastha Vatsyayan1,2, R I Anu3, Prerika Mathur4

  • 1CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi, 110025, India.

Familial cancer
|November 15, 2024
PubMed
概括

BRCAIndica为BRCA1和BRCA2基因提供了美国医学遗传学和基因组学学院/分子病理学协会 (ACMG/AMP) 协调的分类变异. 该资源有助于对基因测试进行准确的解释,特别是在印度人口中.

关键词:
在ACMG中,ACMG就是ACMG.预防癌症 预防癌症数据库数据库数据库是一个数据库.瘤基因组学 瘤基因组学精确瘤学是一门精确的专业.

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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