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CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
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.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS.
Smits DJ, et al.
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.
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