A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Human Mutation

Volumn 34, Issue 5, 2013, Pages 774-784

  Raynal, Caroline ^a,b   Baux, David ^a   Theze, Corinne ^b   Bareil, Corinne ^a   Taulan, Magali ^b,c   Roux, Anne Françoise ^a,c   Claustres, Mireille ^a,b,c   Tuffery Giraud, Sylvie ^b,c   Des Georges, Marie ^a,c  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b UNIV MONTPELLIER   (France)

^c INSERM   (France)

Author keywords

CFTR; Decision flowchart; Interpretation; Splicing; VUCS

Indexed keywords

ARTICLE; CFTR GENE; COMPUTER MODEL; EXON; GENE; GENE LOCATION; GENE MUTATION; GENETIC MODEL; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RNA SPLICING;

CELL LINE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MODELS, GENETIC; RNA SPLICING;

EID: 84876321181     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22291     Document Type: Article

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