Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.R38W
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GLB1

NM_000404.4:p.R38W

Associated Papers

Regulation of anti-CRISPR operons by structurally distinct families of Aca proteins.

Lee SY et al.

Communications Biology, 2025

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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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."