Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.Q366R
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SLC3A1

NM_000341.4:p.Q366R

Associated Papers

The genetics of cystinuria - an update and critical reevaluation.

Abad Baucells C et al.

Current Opinion in Nephrology and Hypertension, 2024

Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.

Liu L et al.

Genes, 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."