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- The DNA sequence of a gene can be altered in a number of ways. Gene variants (also known as mutations) can have varying effects on health, depending on where ...
- CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental ...
- People have two copies of most genes, one copy inherited from each parent. In some cases, however, the number of copies varies—meaning that a person can have ...
- Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such ...
- Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell . A change in the number of chromosomes can cause problems with ...
- Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. ...
- Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many ...
- The CLCN7 gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged ...
- It is well established that changes in genes can alter a protein’s function in the body, potentially causing health problems . Scientists have determined ...
- The PRF1 gene provides instructions for making a protein called perforin. This protein is found in immune cells (lymphocytes) called T cells and natural killer ( ...
