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1. 遺伝子治療、ゲノム編集、遺伝子発現抑制の概要overview of gene therapy gene editing and gene silencing [show details]
…disorders in which an individual has inherited a pathogenic gene variant, gene therapy may be used to provide a normal copy of the gene or a modified version of a gene with special properties such as increased …
2. 遺伝学：用語集genetics glossary of terms [show details]
… multiple pathogenic variants in one gene that all result in the same disease or syndrome. As an example, more than 1500 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause …
3. 肥大型心筋症：遺伝子変異および臨床遺伝子検査hypertrophic cardiomyopathy gene mutations and clinical genetic testing [show details]
… differentiating pathogenic mutations from VUS represents a major limitation to using genetic testing in HCM for clinical applications . The difficulty in reliably determining if gene variants are disease-causing …
4. 遺伝性のびまん性胃癌hereditary diffuse gastric cancer [show details]
… of the gene . All germline pathogenic and likely pathogenic variants are evenly distributed along the gene and lead to functional haploinsufficiency of E-cadherin. CDH1 is a tumor suppressor gene, and therefore …
5. 遺伝性乳癌・卵巣癌症候群の遺伝的リスクのある人への遺伝カウンセリングおよび遺伝子検査genetic counseling and testing for those at risk of hereditary breast and ovarian cancer [show details]
…provide probabilities about the chance of testing positive for a moderate-risk or other high-risk pathogenic gene variant. Characteristics and limitations of each of these models are discussed in the table …