Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K196R
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GBA1

NM_000157.4:p.K196R

Associated Papers

Use of Ambroxol as Therapy for Gaucher Disease.

Zhan X et al.

Jama Network Open, 2023

Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.

Leal AF et al.

Ejifcc, 2022

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Du X et al.

Medicine, 2018

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

Hosoba S et al.

Medicine, 2018

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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."