Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.N370S
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BCHE

NM_000055.4:p.N370S

Associated Papers

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.

Zizzo C et al.

Biology, 2022

Subarachnoid anesthesia in a patient with type I Gaucher disease.

García Collada JC et al.

Acta Anaesthesiologica Scandinavica, 2003

Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management.

Heukamp LC et al.

Pathology, Research and Practice, 2003

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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."