Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R44P
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CDH1

NM_004360.5:p.R44P

Associated Papers

Pathogenic variants at the N-terminal arginine residue 44 disrupt human GABA transporter 1 function: insights from Drosophila epilepsy models.

Shah N et al.

Frontiers in Pharmacology, 2025

Are both distinct epithelial and stromal cells molecular analysis from phyllodes tumors versus fibroadenoma components affected in breast fibroepithelial progression?

Waitzberg ÂFL et al.

Acta Cirurgica Brasileira, 2023

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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."