Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G323S
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SLC7A7

NM_003982.4:p.G323S

Associated Papers

Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.

Barilli A et al.

Molecular Genetics and Metabolism, 2012

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."