Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.R34*
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NR0B2

NM_021969.3:p.R34*

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Enya M et al.

Human Mutation, 2008

High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

Tonooka N et al.

Diabetologia, 2002

Small heterodimer partner, an orphan nuclear receptor, augments peroxisome proliferator-activated receptor gamma transactivation.

Nishizawa H et al.

The Journal of Biological Chemistry, 2002

Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

Nishigori H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

Gender-dependent penetrance of small heterodimer partner (SHP) gene deficiency in overweight/obese Chinese pedigrees.

Yang Z et al.

The Journal of International Medical Research, 0

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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."