Varaico: Literature-Extracted Genetic Variants

Gene:CNOT2
Variant:p.K316*
Back to variants list

CNOT2

NM_014515.7:p.K316*

Associated Papers

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Niceta M et al.

Clinical Genetics, 2023

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

Royer-Bertrand B et al.

American Journal of Medical Genetics. Part A, 2021

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.

Uehara T 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."