Varaico: Literature-Extracted Genetic Variants

Gene:GNB1
Variant:p.A73T
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GNB1

NM_002074.5:p.A73T

Associated Papers

Dosage effect of copy number variation in epilepsy and ten regions of the human brain.

De T et al.

Scientific Reports, 2025

41345172 (PubMed )
Supplement: 41598_2025_28338_MOESM2_ESM.xlsx › SNPs

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders.

Da Silva JD et al.

Frontiers in Neurology, 2021

GNB1-Related Rod-Cone Dystrophy: A Case Report.

Conti GM et al.

Case Reports in Ophthalmology, 0

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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."