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The following term was not found in PubMed: 32637366
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Showing results for Wu C/and/author_id=32637366
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SYN1 variant causes X-linked neurodevelopmental disorders: a case report of variable clinical phenotypes in siblings.
Ren B, Wu X, Zhou Y, Chen L, Jiang J. Ren B, et al. Front Neurol. 2024 Mar 21;15:1359287. doi: 10.3389/fneur.2024.1359287. eCollection 2024. Front Neurol. 2024. PMID: 38576531 Free PMC article.
Whole exome sequencing (WES) confirmed a pathogenic SYN1 variant, c.1647_1650dup (p. Ser551Argfs*134), inherited in an X-linked manner from their mother. ...Retrospective examination of SYN1 variants revealed an association between truncating variants and the pathogenicity …
Whole exome sequencing (WES) confirmed a pathogenic SYN1 variant, c.1647_1650dup (p. Ser551Argfs*134), inherited in an X-linked manne …