Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L188F
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GBA1

NM_000157.4:p.L188F

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Rossi C et al.

Children (basel, Switzerland), 2025

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.

Mohamed FE et al.

Frontiers in Pharmacology, 2024

Use of Ambroxol as Therapy for Gaucher Disease.

Zhan X et al.

Jama Network Open, 2023

Clinical and molecular characteristics of patients with Gaucher disease in Southern China.

Feng Y et al.

Blood Cells, Molecules & Diseases, 2018

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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."