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Article

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to theCFTRGene

5 Feb 2013

Abstract excerpt

Molecular diagnosis of cystic fibrosis and cystic fibrosis transmembrane regulator (CFTR)-related disorders led to the worldwide identification of nearly 1,900 sequence variations in the CFTR gene that consist mainly of private point mutations and small insertions/deletions. Establishing their effect on the function of the encoded protein and therefore their involvement in the disease is still challenging and...

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PMID: 23381846
DOI: 10.1002/humu.22291

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