Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Y283*
Back to variants list

GBA1

NM_000157.4:p.Y283*

Associated Papers

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

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Curado F et al.

Diagnostics (basel, Switzerland), 2023

37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf

[The molecular genetic diagnostic of Gaucher disease type I].

Lukina KA et al.

Klinicheskaia Laboratornaia Diagnostika, 2014

Persistent tryptase elevation in a patient with Gaucher disease.

Schussler E et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."