Variant: rs1555625571 

    present in Gene: TUBB3
    present in Chromosome: 16
    Position on Chromosome: 89934974
    Alleles of this Variant: G/C

rs1555625571 in TUBB3 gene and Multiple congenital anomalies PMID 23503589 2013 β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

PMID 25482575 2015 A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

PMID 24612975 2014 Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

PMID 20829227 2010 Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

PMID 24257358 2013 [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].

PMID 23378218 2013 A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

PMID 26639658 2016 Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

PMID 25059107 2014 Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

PMID 20074521 2010 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

PMID 25559402 2015 Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

rs1555625571 in TUBB3 gene and Overgrowth PMID 25482575 2015 A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

PMID 23378218 2013 A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

PMID 24612975 2014 Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

PMID 20074521 2010 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

PMID 23503589 2013 β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

PMID 24257358 2013 [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].

PMID 26639658 2016 Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

PMID 20829227 2010 Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

PMID 25059107 2014 Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

PMID 25559402 2015 Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.