Variant: rs1057516904 

    present in Gene: MCOLN1
    present in Chromosome: 19
    Position on Chromosome: 7528881
    Alleles of this Variant: -/A

rs1057516904 in MCOLN1 gene and Dysmorphic features PMID 11461186 2001 Mucolipidosis type IV.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 25668017 2015 Lysosomal physiology.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

rs1057516904 in MCOLN1 gene and Muscle hypotonia PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 25668017 2015 Lysosomal physiology.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11461186 2001 Mucolipidosis type IV.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.