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Exact(25)
SLI affects 50% of the children of an affected parent, and it is caused by a mutation affecting a tiny piece of DNA on a gene on chromosome 7.
It is important to ask: what happens to brain circuitry when a mutation affecting a process such as cell migration or synaptogenesis is mutated?
A random mutation affecting a trait is more likely to detract from its functionality than to maintain or enhance it.
A mutation affecting a deeply engrained part of development, for instance the patterning of the body axis in a mammal, will have many deleterious effects and cannot be selected.
The rs384285149 mutation is a missense mutation affecting a highly conserved domain of EIF5A2.
A third Rut-C30-specific mutation affecting a gene element is in the gene 121453 encoding a metallopeptidase.
Similar(35)
Similarly, a deleterious mutation affecting an α-helix important in the interaction of two proteins was compensated by several different mutations in or in the vicinity of the same α-helix.
The mutation affects a single unit in the 6,500 units of DNA that make up the gene.
The second mutation affects a proto-oncogene called BCL-2, which codes for a protein that blocks cell suicide.
The newly identified mutation affects a gene called APP, which encodes a protein that gets broken down into pieces, including β amyloid.
The mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T).
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