Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.E676D
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LRBA

NM_001364905.1:p.E676D

Associated Papers

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

Kong SW et al.

Npj Genomic Medicine, 2025

40021654 (PubMed )
Supplement: 41525_2025_480_MOESM1_ESM.pdf
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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."