Publications
Export 3 results:
Filters: First Letter Of Title is R and Author is Beaudet, Arthur L [Clear All Filters]
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 ;41(3):641-654.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
.