Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.I633del1
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SLC30A5

NM_022902.5:p.I633del1

Associated Papers

[Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel].

Schreiber R et al.

Harefuah, 2025

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Dolgin V et al.

Jimd Reports, 2025

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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."