Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.L157P
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GNAO1

NM_020988.3:p.L157P

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Phenotypes in children with GNAO1 encephalopathy in China.

Li Y et al.

Frontiers in Pediatrics, 2023

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Holborn MA et al.

Genomics, 2022

36270382 (PubMed )
Supplement: mmc11.xlsx › study_variants

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Al Masseri Z et al.

Molecular Genetics and Metabolism Reports, 2022

Phenotypes of GNAO1 Variants in a Chinese Cohort.

Yang X et al.

Frontiers in Neurology, 2021

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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."