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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 (#0001863)
||Salter et al., 2016|
||The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 3/5 minor criteria for spEDS in the 2017 classification|
||c.421C>T (View in UCSC Genome Browser, Ensembl)|