Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.Q544delFs
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SLC3A1

NM_000341.4:p.Q544delFs

Associated Papers

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

Shoji Y et al.

Human Mutation, 2002

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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."