Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.*537R
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GBA1

NM_000157.4:p.*537R

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.

Anurathapan U et al.

Pediatric Blood & Cancer, 2023

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

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

Du X et al.

Medicine, 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."