Article
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
Human mutation - 1 Aug 2017
Boulling Arnaud, Masson Emmanuelle, Zou Wen-Bin, Paliwal Sumit, Wu Hao, Issarapu Prachand, Bhaskar Seema, Génin Emmanuelle, Cooper David N, Li Zhao-Shen, Chandak Giriraj R, Liao Zhuan, Chen Jian-Min, Férec Claude
Abstract excerpt
The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser) variant (also known as rs17107315:T>C) represents the most important heritable risk factor for idiopathic chronic pancreatitis identified to date. The causal variant contained within this risk haplotype has however remained stubbornly elusive. Herein, we set out to resolve this enigma by employing a hypothesis-driven approach. First, we searched for...
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