Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C202delFs
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GLA

NM_000169.3:p.C202delFs

Associated Papers

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Vedder AC et al.

Journal of Inherited Metabolic Disease, 2007

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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."