Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.V183A
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SLC3A1

NM_000341.4:p.V183A

Associated Papers

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

Sakamoto S et al.

Scientific Reports, 2025

The Ectodomains of rBAT and 4F2hc Are Fake or Orphan α-Glucosidases.

Fort J et al.

Molecules (basel, Switzerland), 2021

Cryo-EM structure of the human heteromeric amino acid transporter b0,+AT-rBAT.

Yan R et al.

Science Advances, 2020

Pediatric Cystinuria Patient With Novel Mutation in SLC3A1.

Watanabe Y et al.

Global Pediatric Health, 2019

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

Shigeta Y et al.

Kidney International, 2006

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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."