Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.Y457*
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SLC7A7

NM_003982.4:p.Y457*

Associated Papers

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.

Zhang G et al.

Pediatric Pulmonology, 2017

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

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

Sperandeo MP et al.

Human Mutation, 2005

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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."