Toward a clinical diagnostic pipeline for SPINK1 intronic variants
Abstract Background The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay and in silico splicing prediction was appa...
Main Authors: | Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-02-01
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Series: | Human Genomics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s40246-019-0193-7 |
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