Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.D294_Q295insTT
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SLC5A2

NM_003041.4:p.D294_Q295insTT

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

Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.

Barata R et al.

Clinical Genetics, 2023

37349938 (PubMed )
Supplement: supplement_1.docx

Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria.

Aires I et al.

Nephron, 2015

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