Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.E11G
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GNAT2

NM_001377295.2:p.E11G

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_3

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Dueñas Rey A et al.

Genome Medicine, 2024

38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L et al.

Ophthalmic Genetics, 2013

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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."