Add TAF1 X-linked dystonia-parkinsonism (XDP) #4
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@laurelhiatt would you be willing to take a look at this before merging? |
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sure! any specific aspects? |
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Confirm it it is a pathogenic tandem repeat and see if there is any way of
narrowing down the position. No rush!
…On Fri, Nov 24, 2023, 6:12 PM laurelhiatt ***@***.***> wrote:
sure! any specific aspects?
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Closing for now since the format has changed. Will move to Discussion and suggest doing a new PR in the future. |
Merged
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I couldn't get more specific than a ~2000bp region. May be novel? Would be nice to narrow it down further.