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Article

Variant classifications, databases and genotype-phenotype correlations.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2020

Raynal C, Corvol H

Abstract excerpt

Because CFTR gene studies now represent one of the most frequent genetic analyses routinely performed worldwide, the number of rare CFTR variants identified in various clinical situations, regularly increases. To provide appropriate diagnosis and prognosis to CF patients as well as appropriate genetic counseling to families, the clinical impact and the phenotypic spectrum of variants identified by diagnostic...

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Identifiers

PMID: 32172930
DOI: 10.1016/S0929-693X(20)30045-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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