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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.Q333_G334Splc

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GLA

NM_000169.3:p.Q333_G334Splc

hg38:chrX:101398110 A>T

Associated Papers

Early renal failure in childhood in a male with Fabry disease.

Hogh JN et al.

Bmj Case Reports, 2022

35537774 (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."