Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.E7225_V7226Splc
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DST

NM_001374736.1:p.E7225_V7226Splc

Associated Papers

Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a RNU4-2 pathogenic variant (ReNU syndrome).

Holling T et al.

Jbmr Plus, 2025

40510867 (PubMed )
Supplement: renu-supplement-case_report_ziaf084.pdf
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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."