Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.S1137_G1138delFs
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ARID2

NM_152641.4:p.S1137_G1138delFs

Associated Papers

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Houdayer C et al.

European Journal of Human Genetics : Ejhg, 2025

40044822 (PubMed )
Supplement: 41431_2025_1798_MOESM2_ESM.xlsx › Table_S1

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419

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

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede J et al.

Nature Communications, 2016

26908133 (PubMed )
Supplement: ncomms10767-s2.xls › Feuille1
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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."