Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.V846delFs
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ARID2

NM_152641.4:p.V846delFs

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

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

ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.

Xia D et al.

American Journal of Medical Genetics. Part A, 2023

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.

Kang E et al.

Journal of Medical Genetics, 2021

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Bramswig NC et al.

Human Genetics, 2017

Mutations in ARID2 are associated with intellectual disabilities.

Shang L et al.

Neurogenetics, 2015

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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."