Found 2 results
Filters: Keyword is Loss of Function Mutation  [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)
2020
Drutman SB, Mansouri D, Mahdaviani SAlireza, Neehus A-L, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B et al..  2020.  Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.. N Engl J Med. 382(5):437-445.