Associated Papers
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Wu H et al.
Human Genomics, 2024
38414044 (PubMed )
Supplement: 40246_2024_586_MOESM1_ESM.xlsx › Feuil1
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Masson E et al.
European Journal of Human Genetics : Ejhg, 2006
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Le Maréchal C et al.
Human Mutation, 2004
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