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Paper Details

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
2
2023
Author NameAffiliation
Suzanne M LealBaylor College of Medicine
Josh SmithUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
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Datasets

Release 1.2