A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
about
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Statistical and Computational Methods for Genetic Diseases: An OverviewRepairing the basic defect in cystic fibrosis - one approach is not enough.Four case reports of Chinese cystic fibrosis patients and literature review.Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
P2860
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P2860
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
A classification model relativ ...... application to the CFTR gene.
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type
label
A classification model relativ ...... application to the CFTR gene.
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prefLabel
A classification model relativ ...... application to the CFTR gene.
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P2093
P2860
P356
P1433
P1476
A classification model relativ ...... application to the CFTR gene.
@en
P2093
Anne-Françoise Roux
Caroline Raynal
Corinne Bareil
Corinne Theze
David Baux
Magali Taulan
Marie des Georges
P2860
P304
P356
10.1002/HUMU.22291
P577
2013-04-05T00:00:00Z