c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

Milena Barbosa Porto,1 Geovanna da Mata e Castro,1 Samara Socorro Silva Pereira,2 Elza Maria Gonçalves Santos Uchoa,2 Raffael Zatarin,3 Lysa Bernardes Minasi,1 Aparecido D da Cruz1– 3 1Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia...

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Bibliografski detalji

Glavni autori:	Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD
Format:	Artigo
Jezik:	Inglês
Izdano:	Dove Medical Press 2024-01-01
Serija:	International Medical Case Reports Journal
Teme:	syt1 hypotonia congenital malformations ndd wes
Online pristup:	https://www.dovepress.com/c1103tc-pile368th-de-novo-variant-in-synaptotagmin-1-syt1-gene-is-path-peer-reviewed-fulltext-article-IMCRJ
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