Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D438Y
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GBA1

NM_000157.4:p.D438Y

Associated Papers

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

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