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Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 04/2015, Volume 52, Issue 4, pp. 224 - 230
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 2025 - 2039
Journal Article
Book
Human Mutation, ISSN 1059-7794, 04/2018, Volume 39, Issue 4, pp. 515 - 526
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 548 - 558
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 4/2012, Volume 132, Issue 3, pp. 1009 - 1023
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 5, pp. 369 - 376
Journal Article
Acta Paediatrica, ISSN 0803-5253, 04/2019, Volume 108, Issue 4, pp. 763 - 765
Table S1. Primers used for sequencing FATP4 mRNA splicing events. Figure S1. Potential effects on splicing regulatory elements for the c.988-19A>G variant with... 
PEDIATRICS | RNA | Analysis | Genetic aspects | Mutation | Ichthyosis
Journal Article
Clinical Chemistry, ISSN 0009-9147, 02/2014, Volume 60, Issue 2, pp. 341 - 352
Journal Article