Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.R257Splc
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SLC7A7

NM_003982.4:p.R257Splc

Associated Papers

Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.

Lee WF et al.

Pediatric Rheumatology Online Journal, 2022

Overview of symptoms and treatment for lysinuric protein intolerance.

Noguchi A et al.

Journal of Human Genetics, 2019

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A et al.

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

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Ko JM et al.

Journal of Korean Medical Science, 2012

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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."