Varaico: Literature-Extracted Genetic Variants

Gene:NTRK2
Variant:p.P660L
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NTRK2

NM_006180.6:p.P660L

Associated Papers

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

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

Lessons from extreme human obesity: monogenic disorders.

Ranadive SA et al.

Endocrinology and Metabolism Clinics of North America, 2008

Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.

Gray J et al.

International Journal of Obesity (2005), 2007

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

Yeo GS et al.

Nature Neuroscience, 2004

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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."