Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.L284S
Back to variants list

GNAO1

NM_020988.3:p.L284S

Associated Papers

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Gerald B et al.

Seminars in Pediatric Neurology, 2018

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."