Variant: rs746636748 

    present in Gene: RECQL4;LRRC14
    present in Chromosome: 8
    Position on Chromosome: 144516070
    Alleles of this Variant: CT/-

rs746636748 in RECQL4;LRRC14 gene and Baller-Gerold syndrome PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 28039508 2017 Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

PMID 21143835 2010 Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

PMID 25120469 2014 Rothmund-thomson syndrome: a 13-year follow-up.

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