Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A8
Variant:p.A94T
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SLC7A8

NM_012244.4:p.A94T

Associated Papers

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Knöpfel EB et al.

Frontiers in Physiology, 2019

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.

Espino Guarch M et al.

Elife, 2018

Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan.

Kühne A et al.

Pharmacogenetics and Genomics, 2007

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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."