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Paper Details

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
J Med Genet
14
2022
339 kbp deletion, WS, Werner Syndrome, Werner syndrome, autosomal recessive progeroid syndrome, exon 20, intronic, intronic splice variants, intronic variants, long, pathogenic DNA sequence variant
Author NameAffiliation
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
Fuki M HisamaUniversity of Washington
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