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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC17A5

Variant:p.P284_I285delFs

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SLC17A5

NM_012434.5:p.P284_I285delFs

hg38:chr6:73621927 AATGG>A

Associated Papers

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.

Lin Y et al.

Journal of Inherited Metabolic Disease, 2020

31845334 (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."