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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALT

Variant:p.Q169_I170Splc

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GALT

NM_000155.4:p.Q169_I170Splc

hg38:chr9:34648098 G>A

Associated Papers

Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.

Heathfield LJ et al.

International Journal of Legal Medicine, 2020

32556492 (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."