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Mutation
- What is a gene variant and how do variants occur? How can gene variants affect health and development? Do all gene variants affect health and development? ...
- ... change used to be known as a gene mutation, but because changes in DNA do not always ...
- ... right times. Sometimes, gene variants (also known as mutations) prevent one or more proteins from working properly. ...
- ... variant. These variants are often referred to as mutations. Likely pathogenic : The variant is probably responsible for ...
- ... number of ways. Gene variants (also known as mutations) can have varying effects on health, depending on ...
- ... fibrosis , are caused by variants (also known as mutations) in single genes. The causes of many other ...
- ... conditions are caused by variants (also known as mutations) in a single gene. These conditions are usually ...
- ... people who carry one copy of a gene mutation that, when present in two copies, causes a ... types of testing are used to detect gene mutations associated with disorders that appear after birth, often ...
- ... these regions, a variant (also known as a mutation) in noncoding DNA can turn on a gene ... growing areas of research . Scacheri CA, Scacheri PC. Mutations in the noncoding genome. Curr Opin Pediatr. 2015 ...
- ... only a select few genes. Because most known mutations that cause disease occur in exons, whole exome ... an efficient method to identify possible disease-causing mutations. However, researchers have found that DNA variations outside ...