Article
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Oct 2020
Girodon Emmanuelle, Rebours Vinciane, Chen Jian Min, Pagin Adrien, Levy Philippe, Ferec Claude, Bienvenu Thierry
Abstract excerpt
Since the description of the SPINK1 gene encoding the serine protease inhibitor Kazal type 1 and the CTRC gene encoding the Chymotrypsin C as being involved in chronic pancreatitis, more than 56 SPINK1 and 87 CTRC variants have been reported. Assessing the clinical relevance of SPINK1 and CTRC variants is often complicated in the absence of functional evidence and interpretation of rare variants is not very easy...
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