Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

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Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Author: Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina
Tübinger Autor(en):
Weisschuh, Nicole
Mazzola, Pascale
Bertrand, Miriam
Wissinger, Bernd
Kohl, Susanne
Štingl, Katarína
Haack, Tobias
Published in: International Journal of Molecular Sciences (2021), Bd. 22 (10), Article 5396
Verlagsangabe: Mdpi
Language: English
Full text: http://dx.doi.org/10.3390/ijms22105396
ISSN: 1422-0067
DDC Classifikation: 540 - Chemistry and allied sciences
570 - Life sciences; biology
Dokumentart: Article
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