Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.V633insFs
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SLC3A1

NM_000341.4:p.V633insFs

Associated Papers

Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

Sakamoto S et al.

Scientific Reports, 2025

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA et al.

Current Research in Physiology, 2025

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

Liu D et al.

Bmc Medical Genomics, 2023

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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."