Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.R257Splc
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SLC7A7

NM_003982.4:p.R257Splc

Associated Papers

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Font-Llitjós M et al.

European Journal of Human Genetics : Ejhg, 2009

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M et al.

Human Genetics, 2008

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M

Human Genetics, 2008

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M

Human Genetics, 2008

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M

Human Genetics, 2008

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M et al.

Human Genetics, 2008

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M et al.

Human Genetics, 2008

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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."