Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.A91V
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SLC7A7

NM_003982.4:p.A91V

Associated Papers

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc6.xlsx › Table_S5

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

34573280 (PubMed )
Supplement: genes-12-01299-s001.zip › genes-1330791-suppl › Grossi_et_al_GENES_1330791_Supplemantary_Information_Table_S4_R1.xlsx › Foglio1

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

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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."