학술논문

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Document Type
Article
Source
Human Genome Variation; 7/25/2022, Vol. 9 Issue 1, p1-6, 6p
Subject
CONGENITAL disorders
CHROMATIN-remodeling complexes
DIAGNOSIS
SYMPTOMS
RNA
DEVELOPMENTAL delay
EYELASHES
Language
ISSN
2054345X
Abstract
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