Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.N134fs
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BCHE

NM_000055.4:p.N134fs

Associated Papers

The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.

Zhang L et al.

Journal of Human Genetics, 2024

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic

A Case Report of Primary Neonatal Hypocholinesterase Caused by Homozygous Frameshift Mutation of the utyrylcholinesterase (BCHE) Gene and Review of Literature.

Lv HY et al.

Clinical Laboratory, 2019

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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."