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yyc12596

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[交流] SCI二审大修 这个周末要改出来了 已有28人参与

SCI二审大修,这个周末必须改出来。下周一去找导师审核。
   期盼着SCI能中。
   但是想到修改,只觉得愁得喘不动气。
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yyc12596

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大修*(3) For cases like P6 and P25 there is a high chance that the second mutation has been missed. I would advice RNA studies or studies of Munc18-3 protein expression. For these cases, the authors should also comment on the results of the degranulation assay. In general the author should clearly state in the discussion that for the cases with monoallelic variant, a possible additional variant on the other allele might have been missed (e.g. regulatory variant or complex structural variants).
当时导师看到这个意见,第一反应是问患儿的生存情况。取样是很困难的,再补实验也很困难。
话说,我直到这会也不确定RNA studies 是不是就是逆转录RNA后PCR测序?还是RNA芯片?不管是哪种,我都觉得意义不明确。
Munc18-3 蛋白表达就更奇怪?审稿人为什么想让我补这个蛋白,我到现在都没找到原因。
40楼2016-02-29 21:48:23
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yyc12596

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Major comments:
*(1) The presentation of the genetic results should be improved further. The nomenclature mutation, SNP, single heterozygous used by the authors is very confusing. Please rename the results section are "genetic results" and in table 1 use the term "Summary of genetic findings". It is not immediately clear from table 1 which one are real mutations and which one are polymorphisms or variants of unknown significance. Maybe the authors can reorganize the table to clarify that.
3楼2016-02-27 17:59:05
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yyc12596

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结果部分:Mutation Identification换成Genetic Results
4楼2016-02-27 18:01:10
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yyc12596

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Summary of mutations 换成Summary of genetic findings
5楼2016-02-27 18:06:08
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