| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.23343 |
| P698 | PubMed publication ID | 28945313 |
| P50 | author | Jian-Min Chen | Q53266161 |
| Emmanuelle Masson | Q88286753 | ||
| P2093 | author name string | Renaud Touraine | |
| David N Cooper | |||
| Claude Férec | |||
| Hugues Patural | |||
| Cécile Talbotec | |||
| Claire Gay | |||
| Kareen Billiemaz | |||
| Sylvie Destombe | |||
| Théa Venet | |||
| P2860 | cites work | Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene | Q24311652 |
| Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | Q24645261 | ||
| Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis | Q28145585 | ||
| Identification of the cystic fibrosis gene: genetic analysis | Q29614402 | ||
| Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway | Q33843764 | ||
| Mutations in SBDS are associated with Shwachman-Diamond syndrome | Q33963285 | ||
| Exocrine pancreatic insufficiency in adults: a shared position statement of the Italian Association for the Study of the Pancreas | Q34658130 | ||
| Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis | Q34732835 | ||
| A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance. | Q35760356 | ||
| HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Q35941614 | ||
| A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease | Q36177163 | ||
| A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview | Q36463097 | ||
| Chronic pancreatitis: genetics and pathogenesis | Q37488219 | ||
| Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype | Q38757404 | ||
| [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site | Q42844578 | ||
| Phenotypic variability of the homozygous IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene in patients with chronic pancreatitis | Q43027271 | ||
| Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis | Q44727697 | ||
| Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis | Q48271163 | ||
| Chronic pancreatitis. | Q52984504 | ||
| Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. | Q54593532 | ||
| Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis | Q57263763 | ||
| Relations between Pancreatic Enzyme Outputs and Malabsorption in Severe Pancreatic Insufficiency | Q69496537 | ||
| Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan | Q69906139 | ||
| The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis | Q72718212 | ||
| Cystic fibrosis in adolescents and adults: fatty replacement of the pancreas--CT evaluation and functional correlation | Q77337397 | ||
| Hereditary pancreatitis caused by triplication of the trypsinogen locus | Q79314164 | ||
| Enhanced trypsin activity in pancreatic acinar cells deficient for serine protease inhibitor kazal type 3 | Q79802965 | ||
| P433 | issue | 12 | |
| P921 | main subject | exocrine pancreatic insufficiency | Q641605 |
| P304 | page(s) | 1660-1665 | |
| P577 | publication date | 2017-09-25 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene | |
| P478 | volume | 38 |
| Q61799980 | Bad Tumors Made Worse: SPINK1 |
| Q91962782 | Endoscopic treatment of chronic pancreatitis in pediatric population: Long-term efficacy and safety |
| Q92313549 | First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts |
| Q97519251 | The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted |
| Q104483992 | The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency |
| Q64239617 | Toward a clinical diagnostic pipeline for SPINK1 intronic variants |
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