A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects - George, Merin; Solanki, Avani; Chavan, Niranjan; Rajendran, Aruna; Raj, Revathi; Mohan, Sheila; Nemani, Sandeep; Kanvinde, Shailesh; Munirathnam, Deendayalan; Rao, Sudha; Radhakrishnan, Nita; Lashkari, Harsha Prasada; et al. (Human mutation, 2021)
Keywords: Anemia; Bone marrow; chromosomal breakages; Complementation; complementation groups; Diagnosis; DNA Helicases; FANCA; FANCA gene; FANCB; FANCC; FANCC protein; FANCD1; FANCD2; FANCE; FANCF; FANCG; FANCG gene; FANCI; FANCJ; FANCL; FANCM; FANCN; FANCO; Fanconi anemia; Fanconi Anemia - diagnosis; Fanconi Anemia - genetics; Fanconi Anemia Complementation Group Proteins - genetics; Fanconi Anemia Complementation Group Proteins - metabolism; Fanconi syndrome; FANCP; FANCQ; FANCR/RAD51; FANCS; FANCT; FANCU/XRCC2; FANCV/MAD2L2/REV7; FANCW/RFWD3; Gene deletion; Genetic disorders; genotype–phenotype; Humans; India; Metaphase; mutations; Next-generation sequencing; Patients; Skin pigmentation; India; Fanconi anemia; mutations; chromosomal breakages; FANCQ; FANCP; FANCS; FANCT; FANCI; complementation groups; FANCJ; FANCM; FANCL; FANCO; FANCN; FANCW/RFWD3; FANCA; FANCR/RAD51; FANCC; FANCB; FANCE; genotype-phenotype; FANCG; FANCF; FANCU/XRCC2; FANCD2; FANCD1; FANCV/MAD2L2/REV7