Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q220E
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CFTR

NM_000492.4:p.Q220E

Associated Papers

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.

Hülsenbeck I et al.

Cancers, 2021

Structural effects of extracellular loop mutations in CFTR helical hairpins.

Chang YH et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.

Wehbi H et al.

Biochemistry, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."