Asking for help!

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Rong Zhou

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Oct 19, 2021, 5:03:14 AM10/19/21
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To Whom It May Concern,
     I am writing to asking for help. We are submit our manuscript to Genetics in Medicine. As required, "Please note that the variants included in your manuscript are required to be run through a database to check they are Human Genome Variation Society (HGVS) compliant. Databases include: VariantValidator or Mutalyzer. The files then generated by the database should be included with your manuscript files as an Excel file. "  We verified our CLEC3B variant," NM_003278.3:c.539C>A" in Mutalyzer. But we can not export the result as an Excel file. It would be greatly appreciated that if you could give us some instructions.


Best
Rong Zhou




--

Rong Zhou
Wenzhou Medical University



 

Jeroen Laros

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Oct 19, 2021, 5:13:05 AM10/19/21
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Dear Rong Zhou,

Thank you for using Mutalyzer.

If there is only one variant, the statement that this variant is checked should be enough for the editor. For multiple variants, the Batch Checker [1] can be used. Its output is a tab separated file which can be imported into Excel, which can convert it to the desired format.

I hope this helps.


With kind regards,
Jeroen.

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