Varaico: Literature-Extracted Genetic Variants

Gene:NTRK2
Variant:p.S667W
Back to variants list

NTRK2

NM_006180.6:p.S667W

Associated Papers

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.

Berger E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

Phenotypic and genetic analysis of an adult cohort with extreme obesity.

Stahel P et al.

International Journal of Obesity (2005), 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."