Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.D409G
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GC

NM_000583.4:p.D409G

Associated Papers

Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

Kałużna M et al.

International Journal of Molecular Sciences, 2024

Molecular regulations and therapeutic targets of Gaucher disease.

Chen Y et al.

Cytokine & Growth Factor Reviews, 2018

FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts.

Ong DS et al.

Chemistry & Biology, 2013

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

Ong DS et al.

Nature Chemical Biology, 2010

20453863 (PubMed )
Supplement: NIHMS185032-supplement-1.pdf
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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."