Article
In silico prioritization and further functional characterization of SPINK1 intronic variants.
Human genomics - 4 May 2017
Zou Wen-Bin, Wu Hao, Boulling Arnaud, Cooper David N, Li Zhao-Shen, Liao Zhuan, Chen Jian-Min, Férec Claude
Abstract excerpt
BACKGROUND: SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of transfected HEK293T cells, we concluded that 24 studied SPINK1 intronic variants were not of pathological significance, the...
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