A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
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A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and…
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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In the top 25% of all research outputs scored by Altmetric
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Above-average Attention Score compared to outputs of the same age and source (58th percentile)
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