Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D257G
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GBA1

NM_000157.4:p.D257G

Associated Papers

Diagnosis, treatment and genetic analysis of an elderly patient with Gaucher's disease characterized by marked multiple bone destruction.

Qin SC et al.

Yi Chuan = Hereditas, 2023

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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."