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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
Sep 23, 2024
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by
coffinsirisdev
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Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformationsx
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Protein destabilization underlies pathogenic missense mutations in ARID1B
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