Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T408_N409Splc
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GBA1

NM_000157.4:p.T408_N409Splc

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Álvarez Jerez P et al.

Nature Structural & Molecular Biology, 2024

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Jerez PÁ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.

Rizig M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Leija-Salazar M et al.

Molecular Genetics & Genomic Medicine, 2019

30637984 (PubMed )
Supplement: MGG3-7-na-s003.xlsx › Sheet1
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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."