Varaico: Literature-Extracted Genetic Variants

Gene:FOXP2
Variant:p.M406T
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FOXP2

NM_014491.4:p.M406T

Associated Papers

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Estruch SB et al.

Human Molecular Genetics, 2018

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

Estruch SB et al.

Journal of Neurodevelopmental Disorders, 2016

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.

Lesca G et al.

Epilepsia, 2012

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.

Roll P et al.

Human Molecular Genetics, 2010

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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."