Variant: rs1085307090 

    present in Gene: RECQL4
    present in Chromosome: 8
    Position on Chromosome: 144515325
    Alleles of this Variant: C/A

rs1085307090 in RECQL4 gene and Baller-Gerold syndrome PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

rs1085307090 in RECQL4 gene and Rapadilino syndrome PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

rs1085307090 in RECQL4 gene and Rothmund-Thomson syndrome PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.