Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A5
Variant:p.A32Splc
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SLC17A5

NM_012434.5:p.A32Splc

Associated Papers

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N et al.

American Journal of Human Genetics, 2000

[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].

Eto Y

Ryoikibetsu Shokogun Shirizu, 1998

[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].

Yano T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995

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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."