Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.G145Fs
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BCHE

NM_000055.4:p.G145Fs

Associated Papers

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

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

Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine.

Zhu GD et al.

Pharmacogenomics and Personalized Medicine, 2020

[Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency].

Mabboux I et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2016

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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."