Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.R512H
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SLC34A1

NM_003052.5:p.R512H

Associated Papers

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.

Petzold F et al.

Nutrients, 2023

37432176 (PubMed )
Supplement: nutrients-15-02081-s001.zip › nutrients-2345107-supplementary.pdf

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

Gordon RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."