Variant: rs397509425

present in Gene: GMPPB present in Chromosome: 3 Position on Chromosome: 49722604 Alleles of this Variant: G/A

rs397509425 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs397509425 in GMPPB gene and Multiple congenital anomalies PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 19901254 2009 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.