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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet. 2023 Jul;142(7):949-964. doi: 10.1007/s00439-023-02569-7. Epub 2023 May 17.
Hum Genet. 2023.
PMID: 37198333
Free PMC article.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Smits DJ, Dekker J, Schot R, Tabarki B, Alhashem A, Demmers JAA, Dekkers DHW, Romito A, van der Spek PJ, van Ham TJ, Bertoli-Avella AM, Mancini GMS.
Smits DJ, et al.
Hum Genet. 2023 Mar;142(3):379-397. doi: 10.1007/s00439-022-02511-3. Epub 2022 Dec 20.
Hum Genet. 2023.
PMID: 36538041
Free PMC article.
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