Toward a clinical diagnostic pipeline for SPINK1 intronic variants

被引:0
作者
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
机构
[1] The Second Military Medical University,Department of Gastroenterology, Changhai Hospital
[2] Shanghai Institute of Pancreatic Diseases,Institute of Medical Genetics, School of Medicine
[3] EFS,undefined
[4] Univ Brest,undefined
[5] Inserm,undefined
[6] UMR 1078,undefined
[7] GGB,undefined
[8] CHU Brest,undefined
[9] Service de Génétique,undefined
[10] Cardiff University,undefined
来源
Human Genomics | / 13卷
关键词
Aberrant splicing; Alamut software suite; Chronic pancreatitis; Cryptic splice site; Deep intronic variants; genomAD; In silico splicing prediction; Missing heritability; gene; Splice site consensus sequence;
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