GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
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| Description | scientific article published on 13 December 2018 |
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author: Karen Gripp Michael J Bamshad Margaret P Adam Heather C. Mefford Daniel Doherty Deborah A Nickerson Martin Kircher University of Washington Center for Mendelian Genomics |
| Publication date | December 13, 2018 |
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