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European journal of human genetics, ISSN 1018-4813, 2016, Volume 24, Issue 10, pp. 1377 - 1387
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 06/2018, Volume 39, Issue 6, pp. 790 - 805
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e53896
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2016, Volume 24, Issue 6, pp. 784 - 793
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 663 - 668
Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well... 
GPC3 | DUPLICATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GPC3 gene | Risk assessment | Deoxyribonucleic acid--DNA
Journal Article
Human Mutation, ISSN 1059-7794, 06/2018, Volume 39, Issue 6, pp. 790 - 805
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3).... 
Gigantism | Frameshift Mutation | Humans | Male | Arrhythmias, Cardiac | Codon, Nonsense | Glypicans | Life Sciences | Phenotype | Genes, X-Linked | Heart Defects, Congenital | Pedigree | Female | Genetics | Genetic Diseases, X-Linked | Intellectual Disability | Human genetics
Journal Article