Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.F252L
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GBA1

NM_000157.4:p.F252L

Associated Papers

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

Du X et al.

Medicine, 2018

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M et al.

Jimd Reports, 2013

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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."