Phenotypic spectrum ofFAM47E-SHROOM3haplotype composition in a general population sample
Dariush Ghasemi-Semeskandeh,
Eva König,
Luisa Foco
et al.
Abstract:Genome-wide association studies identified a locus on chromosome 4q21.1, spanning theFAM47E,STBD1,CCDC158, andSHROOM3genes, as associated with kidney function markers. Functional studies implicatedSHROOM3, encoding an actin-binding protein involved in cell shaping, into podocyte barrier damage. Despite the locus was also found associated with electrolytes, hematological and cardiovascular traits, systematic explorations of functional variants across all the genes in the locus are lacking.We reconstructed haplo… Show more
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