Variant: rs387906883

present in Gene: LRP4 present in Chromosome: 11 Position on Chromosome: 46875946 Alleles of this Variant: C/A;G;T

rs387906883 in LRP4 gene and SCLEROSTEOSIS 2 PMID 21471202 2011 Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.

PMID 24234652 2014 LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.