Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G338D
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SLC7A7

NM_003982.4:p.G338D

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

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Dimitriou C et al.

Clinical Case Reports, 2020

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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