Varaico: Literature-Extracted Genetic Variants

Gene:FOXP2
Variant:p.R478*
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FOXP2

NM_014491.4:p.R478*

Associated Papers

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 2024

Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.

Che F et al.

Journal of Applied Genetics, 2024

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

Morison LD et al.

Journal of Medical Genetics, 2023

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS et al.

Journal of Medical Genetics, 2017

[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].

He XY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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."