Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.P337_D338Splc
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SLC3A1

NM_000341.4:p.P337_D338Splc

Associated Papers

Genetic and clinical analysis of Chinese pediatric patients with cystinuria.

Zhan R et al.

Urolithiasis, 2022

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.

Li C et al.

Frontiers in Genetics, 2020

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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."