Varaico: Literature-Extracted Genetic Variants

Gene:TUSC3
Variant:p.R74delFs
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TUSC3

NM_006765.4:p.R74delFs

Associated Papers

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.

Özmansur EN et al.

Clinical Dysmorphology, 2022

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

Al-Amri A et al.

American Journal of Medical Genetics. Part A, 2016

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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."