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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALK1

Variant:p.A119Splc

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GALK1

NM_000154.2:p.A119Splc

hg38:chr17:75763471 G>A

Associated Papers

Identification of five mutations in a patient with galactose metabolic disorders.

Schulpis KH et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

29303783 (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."