Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G562Splc
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BCHE

NM_000055.4:p.G562Splc

Associated Papers

Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report.

Schulze-Berge J et al.

Journal of Medical Case Reports, 2025

Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576).

Parmo-Folloni F et al.

Chemico-biological Interactions, 2008

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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."