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Thus, the N2 mice produced represented a genetically heterogeneous population with which we hoped to investigate: 1) mapping of the Sleepless mutation, which we will not elaborate on here, 2) a genome wide analysis for linkage between multiple sleep-wake traits and genomic regions and 3) the functional relationships among different sleep-wake traits.
Costello mutations include the severe HRasG12V mutation, which we modeled.
This leaves the possibility of some kind of directed mutation, which we will discuss later.
The homozygous p. (Gly1265Arg) mutation, which we identified in an 8-year-old male from Gaza, was never reported before.
These included the Gly10 to d-Ala mutation which we reported in 2008 as a strategy for creating hyperstable Trp-cages.
The second dataset consisted of 1463 genes that are likely to be involved in cancer development on mutation, which we defined as 'candidate cancer genes'.
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In addition, we generated variants lacking both the WRPW domain and the ability to bind DNA (RR→AQ mutations), which we named cHES6-1AQΔWRPW and cHES6-2AQΔWRPW.
We chose to pursue transient transgenic RNAi knockdown during mouse embryogenesis as a means to rapidly validate loss of function gene mutations, which we have identified as part of an ENU mutagenesis screen for late embryonic phenotypic anomalies [15].
We identified ten coding mutations, which we thought seemed like a small number.
Most likely, the original Salk T-DNA insertion line contained additional mutations, which we eliminated by repeated backcrossing.
This procedure yielded 25 proteins with 238 mutations which we kept as an independent test set (S238).
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