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Genotype-phenotype correlations in recessive titinopathies.

Marco SavareseAnna ViholaEmily C OatesRita BarresiChiara FiorilloGiorgio TascaManu JokelaAnna SarkozySushan LuoJordi Díaz-ManeraChristoffer EhrstedtRicardo Rojas-GarcíaAmets SáenzNuria MuelasFortunato LonardoHeidi FodstadTalha QureshiMridul JohariSalla VälipakkaHelena LuquePhilippe PetiotAdolfo López de MunainMarika PaneEugenio MercuriAnnalaura TorellaVincenzo NigroGuja AstreaFilippo Maria SantorelliClaudio BrunoThierry KuntzerIsabel IllaJuan J VílchezCedric JulienAna FerreiroAlessandro MalandriniChong-Bo ZhaoOlivera Casar-BorotaMark DavisFrancesco MuntoniPeter HackmanBjarne Udd
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
Keyphrases
  • copy number
  • intellectual disability
  • muscular dystrophy
  • dna methylation
  • autism spectrum disorder