Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN8
Variant:p.E195V
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GEMIN8

NM_001042479.2:p.E195V

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.

Luo R et al.

Signal Transduction and Targeted Therapy, 2021

34465723 (PubMed )
Supplement: 41392_2021_748_MOESM1_ESM.docx

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Xue F et al.

Journal of Translational Medicine, 2015

26653219 (PubMed )
Supplement: 12967_2015_743_MOESM1_ESM.xlsx › Table_S4
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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."