Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.Q301E
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SALL1

NM_002968.3:p.Q301E

Associated Papers

Decreased trabecular bone score in patients affected by Fabry disease.

Varaldo E et al.

Journal of Endocrinological Investigation, 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."