Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K254Splc
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GBA1

NM_000157.4:p.K254Splc

Associated Papers

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

Khani M et al.

Nature Communications, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.

Mozafari H et al.

Iranian Journal of Child Neurology, 2021

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