Varaico: Literature-Extracted Genetic Variants

Gene:FOXP2
Variant:p.Q172del1
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FOXP2

NM_014491.4:p.Q172del1

Associated Papers

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

Estruch SB et al.

Journal of Neurodevelopmental Disorders, 2016

Contactin‑associated protein‑like 2 expression in SH‑SY5Y cells is upregulated by a FOXP2 mutant with a shortened poly‑glutamine tract.

Zhao Y et al.

Molecular Medicine Reports, 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."