Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.R414C
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BCHE

NM_000055.4:p.R414C

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.

Zeng J et al.

Medicine, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Characterization of four BCHE mutations associated with prolonged effect of suxamethonium.

Brazzolotto X et al.

The Pharmacogenomics Journal, 2021

A patient with prolonged paralysis.

Whittington JE et al.

Clinical Chemistry, 2012

Exploring the role of BCHE in the onset of Diabetes, Obesity and Neurological Disorders.

Rao AA et al.

Bioinformation, 2012

Gene symbol: BCHE.

Chan AO et al.

Human Genetics, 2007

Gene symbol: BCHE.

Chan AO et al.

Human Genetics, 2007

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

On-Kei Chan A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

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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."