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Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

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Title: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
Authors: Yin, Rui1,2 (AUTHOR), Wack, Maxime1 (AUTHOR), Hassen-Khodja, Claire1 (AUTHOR), McDuffie, Michael T.1 (AUTHOR), Bliss, Geraldine3 (AUTHOR), Horn, Elizabeth J.3 (AUTHOR), Kothari, Cartik1 (AUTHOR), McLarney, Brittany3 (AUTHOR), Davis, Rebecca3 (AUTHOR), Hanson, Kristen3 (AUTHOR), O'Boyle, Megan3 (AUTHOR), Betancur, Catalina4 (AUTHOR) catalina.betancur@inserm.fr, Avillach, Paul1 (AUTHOR) Paul_Avillach@hms.harvard.edu
Source: Molecular Autism. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p.
Database: Academic Search Ultimate
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  Data: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Autism%22">Molecular Autism</searchLink>. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p.
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        Value: 10.1186/s13229-024-00619-z
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              Text: 9/30/2024
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