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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 (#0001866)
||Mosher et al., 2019|
||CNGP, SEQ, WES|
||The patient displayed characteristics of spEDS and skeletal dysplasia. They were the only live born child out of three pregnancies from healthy parents. The other pregnancies displayed cystic hygroma and resulted in spontaneous abortion. |
||c.398A>G (View in UCSC Genome Browser, Ensembl)|