A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Overview of attention for article published in Journal of Medical Genetics, March 2020

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RT @ZornitzaS: Expanding the spectrum of UBA5-associated disease, thank you for finding an answer for another family @Gianina_Natoli

Expanding the spectrum of UBA5-associated disease, thank you for finding an answer for another family @Gianina_Natoli

RT @JMG_BMJ: A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy https://t.co/e1dS0Cs8RW #congenitalneuropathy #conge…

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy https://t.co/e1dS0Cs8RW #congenitalneuropathy #congenital #neuropathy #genetics

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