This page is now frozen. No new data will be added. No further corrections will be made.
The B4GALT7 mutation data have been added to a new database.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0001865)
||Sandler-Wilson et al., 2019|
||The patient had a female sibling who also carried both variants and was diagnosed with spEDS. |
||c.421C>T (View in UCSC Genome Browser, Ensembl)|