Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.S386R
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SLC7A7

NM_003982.4:p.S386R

Associated Papers

Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.

Gopalakrishnan C et al.

Journal of Cellular Biochemistry, 2019

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Sperandeo MP et al.

Human Mutation, 2005

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP et al.

American Journal of Human Genetics, 2000

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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."