Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.P442L
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SLC34A1

NM_003052.5:p.P442L

Associated Papers

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Turan I et al.

Calcified Tissue International, 2026

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.

Yavaş C et al.

Revista Da Associacao Medica Brasileira (1992), 2022

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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."