Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.A198T
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UBE3A

NM_130839.5:p.A198T

Associated Papers

A luminescence-based biosensor to measure endogenous UBE3A activity.

Xing L et al.

Iscience, 2025

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Weston KP et al.

Nature Communications, 2021

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

Yi JJ et al.

Cell, 2015

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B et al.

Human Mutation, 2014

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Kelleher RJ et al.

Plos One, 2012

22558107 (PubMed )
Supplement: pone.0035003.s004.pdf
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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."