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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPT

Variant:p.L444R

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GPT

NM_005309.3:p.L444R

hg38:chr8:144506774 T>G

Associated Papers

Clinical and molecular characteristics of Japanese Gaucher disease.

Eto Y et al.

Neurochemical Research, 1999

9972866 (PubMed )

[Molecular studies of Gaucher disease].

Eto Y et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996

8847814 (PubMed )

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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."