Associated Papers
Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.
Sándor M et al.
Gut, 2024
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Hirai S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2023
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.
Ono R et al.
Cancer Science, 2021
33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
Wu H et al.
Human Mutation, 2017
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H et al.
Nature Genetics, 2013
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