Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.L330_G336del0
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ARID2

NM_152641.4:p.L330_G336del0

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

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM1_ESM.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."