A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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1 Online-Ressource.
- Sprache
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Englisch
- Erschienen in
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report ; volume:24 ; number:1 ; day:13 ; month:12 ; year:2023 ; pages:1-8 ; date:12.2023
The Egyptian journal of medical human genetics ; 24, Heft 1 (13.12.2023), 1-8, 12.2023
- Urheber
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Conde-Rubio, Paula
García-Malinis, Ana Julia
Salvador-Rupérez, Elvira
Izquierdo Álvarez, Silvia
González-Tarancón, Ricardo
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1186/s43042-023-00463-5
- URN
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urn:nbn:de:101:1-2024022810575414669073
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:54 MESZ
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Beteiligte
- Conde-Rubio, Paula
- García-Malinis, Ana Julia
- Salvador-Rupérez, Elvira
- Izquierdo Álvarez, Silvia
- González-Tarancón, Ricardo
- SpringerLink (Online service)
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