Varaico: Literature-Extracted Genetic Variants

Gene:TONSL
Variant:p.R115H
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TONSL

NM_013432.5:p.R115H

Associated Papers

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Akyüz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 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."