Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.Q1186*
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SON

NM_138927.4:p.Q1186*

Associated Papers

A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.

Yang L et al.

Molecular Genetics & Genomic Medicine, 2020

Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.

Yang Y et al.

Molecular Genetics & Genomic Medicine, 2019

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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."