Toward a clinical diagnostic pipeline for SPINK1 intronic variants

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Human Genomics
Subjects:
Aberrant splicing
Alamut software suite
Chronic pancreatitis
Cryptic splice site
Deep intronic variants
genomAD
Online Access:http://link.springer.com/article/10.1186/s40246-019-0193-7

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http://link.springer.com/article/10.1186/s40246-019-0193-7

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