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We have narrowed these intervals as far as possible using all available molecularly defined deficiencies, and in each case have tested putative loss of function mutations for all the genes for which stocks are available, but have not found any additional potential Rho1-interacting genes (Table S2).
The majority of genetic mutations for all species but PAR involves an increase in CNV number.
The distribution of the frequency of mutations for all four areas is shown in Fig. 3.
Mutations for all three types of periodic paralysis are found in the Nav1.4 sodium channel encoded by SCN4A.
If I understand correctly, you are saying that COSMIC and InSiGHT cannot provide protein mutations for all DNA mutations.
In total we visually inspected more than 2,200 potential somatic mutations for all three twin pairs (Additional file 1: Table S2).
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Surprisingly, when both mutations are present in the same gene, the pol2-Y831A mutation strongly suppresses the mutator effects of the pol2-4 mutation for all three markers tested in both MMR-proficient and MMR-deficient strains.
We estimated the cancer risk for first-degree relatives of mutation carriers for all mutations and for each mutation separately, using Kaplan Meier survival analysis.
There was no difference in the OPA score according to the presence of the D816V KIT mutation for all patients whose classification was known or for patients whose mastocytosis was confirmed by a central review of pathological and clinical data.
For molecular diagnosis, we first screened the recurrent founder mutation for all XP-C suspected patients.
Table 2 details all the relevant clinical information as well as the genetic mutation for all affected index patients.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com