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Exact(4)
Progression to frank and active disease would require a second somatic mutation (the second "hit") in the remaining allele in the affected tissue type.
Plasmid M1 has a single point mutation; the second 'T' in the HMG domain-binding region was substituted with an 'A'.
Researchers were rather on a quest for the opposite situation, where one crippling mutation is rescued by a second, intragenic, suppressor mutation, the second restoring the function lost due to the first mutation [ 19, 20].
Complete loss of wild-type p53 protein within a cell rarely occurs as a result of homozygous deletions or a double mutation, the second allele is usually inactivated by an alternate mechanism to the first.
Similar(56)
Two years after identifying the V617F mutation, the first specific JAK2 inhibitors were designed.
When the variance is small, the mutation (the third term) is dominant, and it increases the trait variance.
The first mutation is a null-mutation; the second mutation results in an amino acid change affecting a residue poorly conserved amongst species.
The first class includes windows with 5 or less mutations, the second class includes highly mutable regions (6 to 18 mutations).
The first class includes windows with 4 or less mutations, the second class includes highly mutable windows with 5 to 11 mutations per window, and the third class comprises obvious hypermutable windows (number of mutations 14, 15, 17, and 22).
The p.I107T mutation represents the second naturally occurring mutation in the 12-amino-acid-loop of the third GCAP1 EF hand.
The T294M mutation is the first mutation to be shown to selectively abolish the ability of MgADP to stimulate channel activity in the presence of MgATP.
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