An Alu-mediated duplication in NMNAT1, involved in NAD...

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Human Molecular Genetics 2020 / 06

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

Bedoni, Nicola, Quinodoz, Mathieu, Pinelli, Michele, Cappuccio, Gerarda, Torella, Annalaura, Nigro, Vincenzo, Testa, Francesco, Simonelli, Francesca, Corton, Marta, Lualdi, Susanna, Lanza, Federica, M
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Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddaa112
Date:
June, 2020
File:
PDF, 872 KB
2020
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