English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

Key Clinical Message  In line with a recent study showing that  ASXL1  mutations found in the common population cannot be ruled out as pathogenic, we have identified the  ASXL1  p.Gly646Trpfs*12 mutation—present in 132 individuals in ExAC—as a very probable cause of the disease in a Bohring‐Opitz syndrome patient.

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome