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Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother.
Appl Biochem Biotechnol. 2023 Oct;195(10):5792-5801. doi: 10.1007/s12010-023-04377-1. Epub 2023 Jan 28.
Appl Biochem Biotechnol. 2023.
PMID: 36708490
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
Lou G, Ke Y, Zhang Y, Liangjie G, Shama SA, Qi N, Qin L, Liao S, Zhao Y.
Lou G, et al. Among authors: liangjie g.
J Mol Neurosci. 2021 May;71(5):943-952. doi: 10.1007/s12031-020-01713-6. Epub 2020 Oct 6.
J Mol Neurosci. 2021.
PMID: 33025479
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