A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Item
http://www.wikidata.org/entity/Q38079179
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

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Item
http://www.wikidata.org/entity/Q38079179
description
article científic
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A classification model relativ ...... application to the CFTR gene.
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A classification model relativ ...... application to the CFTR gene.
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A classification model relativ ...... application to the CFTR gene.
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A classification model relativ ...... application to the CFTR gene.
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698