Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.E251D
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SLC7A7

NM_003982.4:p.E251D

Associated Papers

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.

Hanafusa H et al.

Jimd Reports, 2023

37927490 (PubMed )
Supplement: JMD2-64-410-s003.xlsx › S_table3

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

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Estève E et al.

Human Pathology, 2017

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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."