Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8K
Variant:p.Q440R
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GOLGA8K

NM_001282493.2:p.Q440R

Associated Papers

Whole-exome sequencing identifies EP300 variants associated with visceral leishmaniasis relapse.

Mukherjee R et al.

International Journal of Biological Macromolecules, 2025

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.

Shi Y et al.

Bmc Pregnancy and Childbirth, 2021

34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova
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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."