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The variability ofSMARCA4-relatedCoffin-Sirissyndrome: Do nonsense candidate variants add to milder phenotypes?
Article
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Overview
publication date
July 20, 2020
webpage
Web of Science
published in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Journal
Research
keywords
BAF complex
Coffin-Siris syndrome
SMARCA4
intellectual disability
nonsense variants