Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E395D
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CFTR

NM_000492.4:p.E395D

Associated Papers

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.

Bahia MS et al.

Journal of Chemical Information and Modeling, 2021

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