Varaico: Literature-Extracted Genetic Variants

Gene:DLG3
Variant:p.R217*
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DLG3

NM_021120.4:p.R217*

Associated Papers

Identification of a DLG3 stop mutation in the MRX20 family.

Huyghebaert J et al.

European Journal of Human Genetics : Ejhg, 2024

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Gieldon L et al.

American Journal of Medical Genetics. Part A, 2017

Next-generation sequencing in X-linked intellectual disability.

Tzschach A et al.

European Journal of Human Genetics : Ejhg, 2015

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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."