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Results of germline screening for MLH1 mutations were unavailable from the C-CFR for 69 individuals, and the characteristics of this group are shown as cohort 2 (Table 1 ).
RNAi was used to test genes for which mutations were unavailable or to bypass pleiotropy and possibly reveal dendrite phenotypes in cases where genetic mutations resulted in embryonic or larval lethality.
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Finally, data on the presence of BCR/ABL mutations was unavailable.
Author response: Unfortunately, large collections of mutations are unavailable for either p63 or p73.
In addition, six individuals with a clinical diagnosis of RTS we had in our collection were also included in the screen, with two of the patients being normal for RECQL4 (RECQL4 mutation data were unavailable for the other patients).
Diagnostic samples from 315/443 (71.1%) eligible AML patients were analyzed for CEBPA mutations; CEBPA data were unavailable for 128 patients.
Whilst she is most likely to be homozygous for the observed mutation, her parents were unavailable for testing and hence we are unable to exclude hemizygosity.
The H1047R mutation was somatic in one patient; blood samples for comparison were unavailable for the remaining two patients.
Other tissues of this patient were unavailable to confirm the germline status of the mutation.
Parents of both these patients were unavailable to study; consequently, we cannot exclude the possibility that both these variants may represent de novo mutations.
Most were unavailable.
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