Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.T478P
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SLC3A1

NM_000341.4:p.T478P

Associated Papers

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.

Wang X et al.

Kidney International Reports, 2025

40814648 (PubMed )
Supplement: mmc1.pdf

Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Liu Y et al.

Pediatric Nephrology (berlin, Germany), 2023

Genetic and clinical analysis of Chinese pediatric patients with cystinuria.

Zhan R et al.

Urolithiasis, 2022

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