Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene - Concepedia

Concepedia

Publication | Open Access

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

DOI Full Paper Access

45

Citations

32

References

2018

Year

Anne Bergougnoux, Karine Delétang, A. Pommier, Jessica Varilh, Florence Houriez, J.P. Altiéri, Claude Férec, Mireille Claustres, G. Lalau, Thierry Bienvenu,

Journal of Cystic Fibrosis

Mendelian DisorderGenetic DisorderGeneticsPathologyPhenotypic SpectrumMolecular GeneticsCftr GeneFunctional CharacterizationMedical GeneticsDisease Gene IdentificationGene ExpressionMedicineFunctional GenomicsVariant Interpretation

References

	Year	Citations

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