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Open Accesshttps://doi.org/10.1016/j.bbadis.2024.167126
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Cite Publication Date: Mar 18, 2024 | |
 Citations: 1 |  License type: cc-by-nc-nd |
A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
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