Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L311insFs
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GLA

NM_000169.3:p.L311insFs

Associated Papers

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Germain DP et al.

Clinical Genetics, 2022

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Nguyen K et al.

Circulation. Genomic and Precision Medicine, 2019

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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."