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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.R220delFs

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GLA

NM_000169.3:p.R220delFs

hg38:chrX:101398926 TCG>T

Associated Papers

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Natarajan P et al.

Science Translational Medicine, 2016

27831900 (PubMed )

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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."