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Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.

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Title: Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Authors: Silva Rodriguez, Maël1,2 (AUTHOR), Mulot, Margaux1 (AUTHOR), Chéry, Céline1,2,3 (AUTHOR), Bensenane, Mouni4 (AUTHOR), Guéant‐Rodriguez, Rosa‐Maria1,2,3 (AUTHOR), Jaussaud, Roland5 (AUTHOR), Cobat, Aurélie6,7,8 (AUTHOR), Feillet, François2,3,9 (AUTHOR), Bronowicki, Jean‐Pierre2,3,4 (AUTHOR), Namour, Farès1,2,3 (AUTHOR), Guéant, Jean‐Louis1,2,3 (AUTHOR), Oussalah, Abderrahim1,2,3 (AUTHOR) abderrahim.oussalah@univ-lorraine.fr
Source: Hepatology Research. Jul2025, Vol. 55 Issue 7, p1075-1092. 18p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22Hepatology+Research%22">Hepatology Research</searchLink>. Jul2025, Vol. 55 Issue 7, p1075-1092. 18p.
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        Value: 10.1111/hepr.14203
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        Text: English
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      – TitleFull: Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
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              Text: Jul2025
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              Y: 2025
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