Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 9(43), p. 1239-1248, 2022
DOI: 10.1002/humu.24384
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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Journal article published in 2022 by
Juliette Coursimault 
,
Anne Rovelet‐Lecrux ,
Kévin Cassinari ,
Elise Brischoux‐Boucher ,
Pascale Saugier‐Veber ,
Alice Goldenberg ,
François Lecoquierre ,
Nathalie Drouot,
Anne‐Claire Richard,
Gabriella Vera,
Sophie Coutant,
Olivier Quenez ,
Marion Rolain,
Céline Bonnet,
Myriam Bronner
and other authors.
,
Anne Rovelet‐Lecrux ,
Kévin Cassinari ,
Elise Brischoux‐Boucher ,
Pascale Saugier‐Veber ,
Alice Goldenberg ,
François Lecoquierre ,
Nathalie Drouot,
Anne‐Claire Richard,
Gabriella Vera,
Sophie Coutant,
Olivier Quenez ,
Marion Rolain,
Céline Bonnet,
Myriam Bronner
and other authors.
This paper is made freely available by the publisher.
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