Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.I461fs
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SLC7A7

NM_003982.4:p.I461fs

Associated Papers

Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.

Pascual López JR et al.

Biochemistry and Biophysics Reports, 2025

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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."