Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E528_D529Splc
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CFTR

NM_000492.4:p.E528_D529Splc

Associated Papers

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M et al.

Human Mutation, 2017

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

Raynal C et al.

Human Mutation, 2013

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