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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345025
Free PMC article.
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH.
Sofou K, et al.
EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3.
EMBO Mol Med. 2021.
PMID: 33938619
Free PMC article.
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