present in Gene: FANCL;VRK2
present in Chromosome: 2
Position on Chromosome: 58160103
Alleles of this Variant: CTTAC/-
rs1558727300 in
FANCL;VRK2 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.