Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S384F
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GBA1

NM_000157.4:p.S384F

Associated Papers

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

Phetthong T et al.

Orphanet Journal of Rare Diseases, 2021

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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."