Varaico: Literature-Extracted Genetic Variants

Gene:DLG3
Variant:p.R756*
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DLG3

NM_021120.4:p.R756*

Associated Papers

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Malbos M et al.

European Journal of Human Genetics : Ejhg, 2025

Identification of a DLG3 stop mutation in the MRX20 family.

Huyghebaert J et al.

European Journal of Human Genetics : Ejhg, 2024

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Martinez-Granero F et al.

Npj Genomic Medicine, 2021

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

30091983 (PubMed )
Supplement: pone.0201041.s001.xlsx › Tabelle1

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

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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."