Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.D294N
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SLC5A2

NM_003041.4:p.D294N

Associated Papers

Genetic and clinical characterization of familial renal glucosuria.

Xu L et al.

Clinical Kidney Journal, 2024

38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

Wang S et al.

Frontiers in Genetics, 2020

Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria.

Wang S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

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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."