present in Gene: MAN2B1
present in Chromosome: 19
Position on Chromosome: 12649968
Alleles of this Variant: C/-
rs1555706706 in
MAN2B1 gene and
Movement Disorders
PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.
PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.
PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.