Varaico: Literature-Extracted Genetic Variants

Gene:NTRK2
Variant:p.T720I
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NTRK2

NM_006180.6:p.T720I

Associated Papers

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Elkhateeb N et al.

Clinical Genetics, 2024

Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.

Long A et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2022

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF et al.

American Journal of Human Genetics, 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."