Publications
Filters: Author is Mancias, Pedro [Clear All Filters]
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 ;12(7):1169-83.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Biallelic Pathogenic Variants in Associated With Congenital Myopathy. Neurol Genet. 2021 ;7(3):e589.
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