Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.A717fs
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SON

NM_138927.4:p.A717fs

Associated Papers

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

Ates K et al.

Molecular Syndromology, 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."