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A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Dec 23, 2024
—
by
coffinsirisdev
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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1
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The missing link: ARID1B non-truncating variants causing Coffin-Sirissyndrome due to protein aggregation
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