Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.L124P
Back to variants list

SLC7A7

NM_003982.4:p.L124P

Associated Papers

A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.

Wang Y et al.

Heliyon, 2024

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."