Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

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Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

Author: Solaki, Maria; Wissinger, Bernd; Kohl, Susanne; Reuter, Peggy
Tübinger Autor(en):
Solaki, Maria
Wissinger, Bernd
Kohl, Susanne
Reuter, Peggy
Published in: Genetics in Medicine (2023), Bd. 25 (12), Article 100979
Verlagsangabe: New York : Elsevier Science Inc
Language: English
Full text: http://dx.doi.org/10.1016/j.gim.2023.100979
ISSN: 1098-3600
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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