Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A5
Variant:p.E175_G176Splc
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SLC17A5

NM_012434.5:p.E175_G176Splc

Associated Papers

Free sialic acid storage disorder: Progress and promise.

Huizing M et al.

Neuroscience Letters, 2021

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Lines MA et al.

Jimd Reports, 2014

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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."