Varaico: Literature-Extracted Genetic Variants

Gene:SNX10
Variant:p.V15delFs
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SNX10

NM_013322.3:p.V15delFs

Associated Papers

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.

Amirfiroozy A et al.

Molecular and Cellular Probes, 2025

Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.

Elson A et al.

Frontiers in Cell and Developmental Biology, 2021

A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis.

Amirfiroozy A et al.

Avicenna Journal of Medical Biotechnology, 0

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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."