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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124.
Hum Mol Genet. 2023.
PMID: 37531237
Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Kang SC, Sarn NB, Venegas J, Tan Z, Hitomi M, Eng C.
Kang SC, et al. Among authors: sarn nb.
Mol Psychiatry. 2023 Nov 29. doi: 10.1038/s41380-023-02325-3. Online ahead of print.
Mol Psychiatry. 2023.
PMID: 38030818
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Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.
Jaini R, Loya MG, King AT, Thacker S, Sarn NB, Yu Q, Stark GR, Eng C.
Jaini R, et al. Among authors: sarn nb.
Hum Mol Genet. 2020 Aug 11;29(14):2353-2364. doi: 10.1093/hmg/ddaa118.
Hum Mol Genet. 2020.
PMID: 32588888
Free PMC article.
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