Associated Papers
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
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Molecular Genetics & Genomic Medicine, 2020
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
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