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Schematic representation of the ACVR2A gene. The open boxes represent the 11 numbered exons and the solid boxes represent the 5′ and 3′ untranslated regions, respectively. The location of the 49 polymorphisms identified by re-sequencing are positioned below. The polymorphisms are labelled with their unique identifiers [rs-numbered SNPs deposited in NCBI's dbSNP or LF-numbered variants (SNPs or insertion deletions) assigned by the investigators to novel polymorphisms].
