Found 2 results
Filters: Keyword is Fanconi Anemia Complementation Group L Protein  [Clear All Filters]
2025
Harrison BA, Mizrahi-Powell E, Pappas J, Thomas K, Vasishta S, Hebbar S, Shukla A, Nayak SS, Truong TK, Woroch A et al..  2025.  Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.. J Clin Invest. 135(11)
2015
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC et al..  2015.  Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.. Cell Rep. 12(1):35-41.