present in Gene: VRK2;FANCL
present in Chromosome: 2
Position on Chromosome: 58163519
Alleles of this Variant: T/C
rs1558737575 in
VRK2;FANCL gene and
Fanconi Anemia
PMID 19405097 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.