Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB2
Variant:p.C178S
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IL12RB2

NM_001374259.2:p.C178S

Associated Papers

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.

Wang T et al.

Clinical Case Reports, 2024

38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.

Chen X et al.

Journal of Translational Medicine, 2018

29843741 (PubMed )
Supplement: 12967_2018_1522_MOESM1_ESM.xlsx › Sheet1
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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."