Varaico: Literature-Extracted Genetic Variants

Gene:AGAP1
Variant:p.T319_S320Splc
Back to variants list

AGAP1

NM_001037131.3:p.T319_S320Splc

Associated Papers

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.

Lewis SA et al.

Disease Models & Mechanisms, 2023

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.

Lewis SA et al.

Biorxiv : the Preprint Server for Biology, 2023

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_2

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

The emerging genetic landscape of cerebral palsy.

van Eyk CL et al.

Handbook of Clinical Neurology, 2018

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

McMichael G et al.

Molecular Psychiatry, 2015

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."