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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Sep 25, 2024
—
by
coffinsirisdev
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Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype
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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1
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