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Diabetes, ISSN 0012-1797, 03/2013, Volume 62, Issue 3, pp. 993 - 997
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1660 - 1665
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and... 
pancreatic lipomatosis | chronic pancreatitis | SPINK1 | gene | insertion | Alu | exocrine pancreatic insufficiency | SPINK1 gene | Alu insertion | SYSTEMATIC ANALYSIS | HEREDITARY PANCREATITIS | VARIANTS | SHWACHMAN-DIAMOND-SYNDROME | IDENTIFICATION | GENETICS & HEREDITY | IVS3+2T-GREATER-THAN-C MUTATION | SERINE-PROTEASE INHIBITOR | ACINAR-CELLS | CYSTIC-FIBROSIS | KAZAL TYPE-1 | Exocrine Pancreatic Insufficiency - genetics | Sequence Deletion | Cystic Fibrosis - physiopathology | Humans | Infant | Lipomatosis - diagnostic imaging | Pancreatic Diseases - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - genetics | Cystic Fibrosis - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - metabolism | Exocrine Pancreatic Insufficiency - physiopathology | Exocrine Pancreatic Insufficiency - diagnostic imaging | Female | Alu Elements - genetics | Pancreatic Diseases - physiopathology | Genetic Predisposition to Disease | Lipomatosis - physiopathology | Lipomatosis - genetics | Bone Marrow Diseases - physiopathology | Bone Marrow Diseases - genetics | Pancreatic Diseases - genetics | Homozygote | Magnetic Resonance Imaging | Phenotype | Bone Marrow Diseases - diagnostic imaging | Cystic Fibrosis - genetics | Mutagenesis, Insertional | Pancreatic diseases | Genes | Trypsin | 3' Untranslated regions | Clonal deletion | Fibrosis | Insertion | Cystic fibrosis | Lipomatosis | Pancreatic secretory trypsin | Children | Pancreas | Gene deletion | Index Medicus
Journal Article
Genes and Development, ISSN 0890-9369, 2011, Volume 25, Issue 9, pp. 917 - 929
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 558 - 566
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 364 - 374
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2015, Volume 11, Issue 6, pp. e1005288 - e1005288
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2017, Volume 127, Issue 11, pp. 4090 - 4103
Journal Article