Varaico: Literature-Extracted Genetic Variants

Gene:DLG4
Variant:p.F383_L385delFs
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DLG4

NM_001365.5:p.F383_L385delFs

Associated Papers

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Moutton S et al.

Clinical Genetics, 2018

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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."