Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.N227N
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GBA1

NM_000157.4:p.N227N

Associated Papers

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Phetthong T et al.

Orphanet Journal of Rare Diseases, 2021

34930372 (PubMed )
Supplement: 13023_2021_2151_MOESM1_ESM.docx

Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.

Atashrazm F et al.

Scientific Reports, 2018

A common and two novel GBA mutations in Thai patients with Gaucher disease.

Tammachote R et al.

Journal of Human Genetics, 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."