Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.V232D
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BCHE

NM_000055.4:p.V232D

Associated Papers

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

Zeng J et al.

Medicine, 2024

39465744 (PubMed )
Supplement: medi-103-e39976-s001.xlsx › BCHE_Table2

Butyryl-cholinesterase deficiency: A case report of delayed recovery after general anaesthesia.

Al-Emam A

Toxicology Reports, 2021

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.

Delacour H et al.

Plos One, 2014

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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."