Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.A1340delFs
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SON

NM_138927.4:p.A1340delFs

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

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Tang S et al.

Molecular Genetics & Genomic Medicine, 2023

37488749 (PubMed )
Supplement: MGG3-11-e2188-s001.xls › Sheet

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.

Vasquez-Forero DM et al.

Frontiers in Genetics, 2023

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R et al.

Molecular Genetics & Genomic Medicine, 2020

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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."