Variant: rs730880324 

    present in Gene: BRAT1
    present in Chromosome: 7
    Position on Chromosome: 2543754
    Alleles of this Variant: -/T

rs730880324 in BRAT1 gene and Dysmorphic features PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

PMID 27282648 2016 BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

PMID 28635423 2017 Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

PMID 26494257 2016 BRAT1-related disease--identification of a patient without early lethality.

PMID 27480663 2016 BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

PMID 27282546 2016 BRAT1 mutations present with a spectrum of clinical severity.

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 16452482 2006 ATM activation by ionizing radiation requires BRCA1-associated BAAT1.

rs730880324 in BRAT1 gene and RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 26947546 2016 Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.