Cecilia Maria Taccagni - JoVE Visualize

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European Journal of Human Genetics : EJHG|October 11, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.

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European Journal of Human Genetics : EJHG|October 11, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.

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