Varaico: Literature-Extracted Genetic Variants

Gene:SH3D19
Variant:p.P93L
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SH3D19

NM_001378122.1:p.P93L

Associated Papers

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.

Żukowska A et al.

International Journal of Molecular Sciences, 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."