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Journal Article
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 688 - 693
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 146, Issue 6, pp. 889 - 903
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, p. 720
  SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to... 
Tissue | Genotype & phenotype | Brain | Genomics | Cell cycle | Stem cells
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, p. 841
  Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia,... 
Proteins | Genotype & phenotype | Genetic disorders | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2008, Volume 40, Issue 12, pp. 1466 - 1471
Journal Article
PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 3, p. e1004258
Journal Article
Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1326 - 1342
Journal Article