Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome.

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作者： Cesare,Rossi ^[1] ; Sherin,Ramadan ^[2] ; Cecilia,Evangelisti ^[1] ; Simona,Ferrari ^[2] ; Maria,Accadia ^[1] ; Reha M,Toydemir ^[3] ; Emanuele,Panza ^[4]

作者单位： UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. ^[1] Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy. ^[2] Servizio di Genetica Medica, Ospedale "Cardinale G. Panico", Tricase (LE), Italy. ^[3] Department of Pediatrics, University of Utah, Salt Lake City, UT, United States. ^[4]

关键词 CHARGE syndrome CHD7 intronic variant minigene splice site mutation

DOI 10.3389/fgene.2023.1082100

PMID 36845402

发布时间 2023-02-28

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Frontiers in genetics

2023年14卷

1082100页

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Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome.

Frontiers in genetics

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Frontiers in genetics

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Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome.

Frontiers in genetics

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Frontiers in genetics

相关期刊

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