Varaico: Literature-Extracted Genetic Variants

Gene:CHRNG
Variant:p.L100R
Back to variants list

CHRNG

NM_005199.5:p.L100R

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

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L et al.

American Journal of Medical Genetics. Part A, 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."