Publications
Export 3 results:
Author Title [ Year] Filters: Author is Gambin, Tomasz and Keyword is Exons [Clear All Filters]
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 98, 347-57 (2016).
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).