Varaico: Literature-Extracted Genetic Variants

Gene:TONSL
Variant:p.R1018H
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TONSL

NM_013432.5:p.R1018H

Associated Papers

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].

Zhu L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

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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."