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Toward a clinical diagnostic pipeline for SPINK1 intronic variants

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 apparent. Ho...

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Detalles Bibliográficos
Autores principales: Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David N., Liao, Zhuan, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373104/
https://www.ncbi.nlm.nih.gov/pubmed/30755276
http://dx.doi.org/10.1186/s40246-019-0193-7