Variant: rs200646278 

    present in Gene: GNPTAB
    present in Chromosome: 12
    Position on Chromosome: 101770429
    Alleles of this Variant: G/A

rs200646278 in GNPTAB gene and MUCOLIPIDOSIS II ALPHA/BETA (disorder) PMID 23773965 2013 Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

rs200646278 in GNPTAB gene and Mucolipidoses PMID 21549105 2011 Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 23773965 2013 Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

rs200646278 in GNPTAB gene and Pseudo-Hurler Polydystrophy PMID 23773965 2013 Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.