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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features #55

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pnrobinson opened this issue Nov 21, 2023 · 1 comment

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pnrobinson commented Nov 21, 2023

https://www.jci.org/articles/view/171235

pnrobinson added the curation label

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pnrobinson commented Mar 30, 2024

RBFOX1 and PRPF19 are not in OMIM yet.
Added data from U2AF2

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