Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.G352_R353insFs
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SLC34A3

NM_001177316.2:p.G352_R353insFs

Associated Papers

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Anderegg MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024

38544324 (PubMed )
Supplement: gfae074_Supplemental_Files.zip › Suppl_Table_2.xlsx › Suppl_Variant_Table

Growth hormone therapy in HHRH.

Filler G et al.

Bone Reports, 2022

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.

Molin A et al.

Frontiers in Endocrinology, 2021

34721296 (PubMed )
Supplement: Table_1.xlsx › RELATIVES

Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.

Bertholet-Thomas A et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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."