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The PLOD1 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 (#0001831)
||Salinas-Torres et al., 2020|
||The proband and her half-sister were born with gastroschisis. Both individuals and their shared mother carried the variant. This variant was described in the paper as ENST00000376369.3:c.1612-8C>T.|
||No known pathogenicity|
||c.1471-8C>T (View in UCSC Genome Browser, Ensembl)|