Varaico: Literature-Extracted Genetic Variants

Gene:CELSR2
Variant:p.E307*
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CELSR2

NM_001408.3:p.E307*

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans.

Tahir UA et al.

The Journal of Clinical Investigation, 2024

39316441 (PubMed )
Supplement: jci-134-181802-s010.xlsx › ST10

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Zhou W et al.

Cell Genomics, 2022

36777996 (PubMed )
Supplement: mmc8.xlsx › Table_S7

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nielsen JB et al.

Nature Communications, 2020

33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S4

Genetic architecture of cardiometabolic risks in people living with HIV.

Cheng H et al.

Bmc Medicine, 2020

33109212 (PubMed )
Supplement: 12916_2020_1762_MOESM2_ESM.xlsx › LDL_EA

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1
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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."