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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

Published on 2 October 2023
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Description
 
Date de publication 
Auteurs
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Maurin PF, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P and Nicolas G
Revue
Année2,022
Département / Service
CNRGH
Laboratoire
LBanq, LHD
Impact Factor4.7
InstitutJACOB
url DOI10.1002/humu.24438

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