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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... 
SPINK1 gene | pancreatic lipomatosis | chronic pancreatitis | exocrine pancreatic insufficiency | 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 | Insertion | Cystic fibrosis | Lipomatosis | Pancreatic secretory trypsin | Children | Pancreas | Gene deletion
Journal Article
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Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, p. 558
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Gastroenterology, ISSN 0016-5085, 2012, Volume 143, Issue 2, pp. 481 - 492
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1155 - 1164
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British Journal of Haematology, ISSN 0007-1048, 07/2018, Volume 182, Issue 1, pp. 114 - 124
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Genes and Development, ISSN 0890-9369, 2011, Volume 25, Issue 9, pp. 917 - 929
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Journal of Clinical Lipidology, ISSN 1933-2874, 2017, Volume 11, Issue 3, pp. 763 - 767
Journal Article