Publications
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[ Author] Title Year Filters: Keyword is Mutation and Author is Carvalho, Claudia M B [Clear All Filters]
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 17, 224-38 (2016).