Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.L444P
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GPT

NM_005309.3:p.L444P

Associated Papers

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Kilavuz S et al.

Orphanet Journal of Rare Diseases, 2025

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Stanescu S et al.

Biomedicines, 2023

Clinical and molecular characteristics of Japanese Gaucher disease.

Eto Y et al.

Neurochemical Research, 1999

[Molecular studies of Gaucher disease].

Eto Y et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996

Ultrastructural features of gaucher disease treated with enzyme replacement therapy presenting as mesenteric mass lesions.

Fowler DJ et al.

Fetal and Pediatric Pathology, 0

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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."