Variant: rs121434407 

    present in Gene: LOC101929270;GLE1
    present in Chromosome: 9
    Position on Chromosome: 128536414
    Alleles of this Variant: G/A

rs121434407 in LOC101929270;GLE1 gene and Dysmorphic features PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

rs121434407 in LOC101929270;GLE1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 1 PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

rs121434407 in LOC101929270;GLE1 gene and Multiple congenital anomalies PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

rs121434407 in LOC101929270;GLE1 gene and Muscle hypotonia PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.