Varaico: Literature-Extracted Genetic Variants

Gene:DLG3
Variant:p.R574*
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DLG3

NM_021120.4:p.R574*

Associated Papers

Identification of a DLG3 stop mutation in the MRX20 family.

Huyghebaert J et al.

European Journal of Human Genetics : Ejhg, 2024

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 2020

A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants.

Sandestig A et al.

Molecular Syndromology, 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."