Varaico: Literature-Extracted Genetic Variants

Gene:NPY4R
Variant:p.R239W
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NPY4R

NM_005972.6:p.R239W

Associated Papers

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Pérez-Vidarte F et al.

Annals of Clinical and Translational Neurology, 2025

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Rehman AU et al.

Scientific Reports, 2021

CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity.

Aerts E et al.

Obesity (silver Spring, Md.), 2016

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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."