Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.M162V
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GBA1

NM_000157.4:p.M162V

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Chew EG et al.

Nature Aging, 2025

39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_9

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.

Zhou Y et al.

Npj Parkinson's Disease, 2023

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Peterschmitt MJ et al.

Journal of Parkinson's Disease, 2022

34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

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

Feng Y et al.

Blood Cells, Molecules & Diseases, 2018

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease.

Wan L et al.

Platelets, 2017

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

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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."