Variant: rs769345284 

    present in Gene: NEB
    present in Chromosome: 2
    Position on Chromosome: 151537898
    Alleles of this Variant: G/A

rs769345284 in NEB gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs769345284 in NEB gene and Myopathies, Nemaline PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

rs769345284 in NEB gene and Nemaline Myopathy 2 PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 26841830 2016 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.