Varaico: Literature-Extracted Genetic Variants

Gene:TAS2R38
Variant:p.N183S
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TAS2R38

NM_176817.5:p.N183S

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

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW et al.

Nature Genetics, 1999

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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."