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Expected publication missing for variant #1287

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melissacline opened this issue Jan 13, 2021 · 0 comments
Open

Expected publication missing for variant #1287

melissacline opened this issue Jan 13, 2021 · 0 comments
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@melissacline
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From Maaike: was viewing a BRCA1 variant c.4868C>G (BRCA1) - BRCA Exchange which has been classified based on it’s effect on RNA splicing which one would not expect since the variant is located in the middle of an exon.

The paper that describe this analysis (Walker et al, 2010 doi:10.1002/humu.21267 is not included in the literature search. If I click on “ view 3 more publications …” I see a white screen.

@melissacline melissacline self-assigned this Jan 13, 2021
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