‡a
prevalenceofpathogenicandlikelypathogenicvariantsintherasopathygenesinpatientswhohavehadpaneltestingforcardiomyopathy
‡A
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy
‡9
1
‡a
mutationalanalysisoftheldlrgeneinacohortofcolombianfamilieswithfamilialhypercholesterolemia
‡A
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia
‡9
1
‡a
smarca2mutationinthe1casereportofnicolaidesbaraitsersyndromeinlatinamericagenotypephenotypecorrelation
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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation
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1
