Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A9
Variant:p.A109T
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SLC7A9

NM_014270.5:p.A109T

Associated Papers

Genetic and clinical analysis of Chinese pediatric patients with cystinuria.

Zhan R et al.

Urolithiasis, 2022

Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.

Ma YY et al.

Clinical Laboratory, 2018

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

Martell HJ et al.

Bmc Genomics, 2017

Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.

Burger JA et al.

Nature Communications, 2016

27199251 (PubMed )
Supplement: ncomms11589-s2.xlsx › MM_workingCopy-1.txt

The genetic diversity of cystinuria in a UK population of patients.

Wong KA et al.

Bju International, 2015

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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."