Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Latner DR, Hiatt SM, Finnila CR, Kelley WV, Johnston M, Patrick-Esteve J, Elkhateeb N, Kamel MA, Barakat TS, van Slegtenhorst M, Mensah MA, Pang L, Bowman P, Lefroy H, Cleaver R, Palmquist R, Karamian AGS, Smith EE, Bachir S, Monaghan KG, Wentzensen IM, Stevens CA, Pouncey J, Fieg E, Krier JB, de Gusmao CM, Pallais JC, Skidmore PT, Bisarad P, Bakhtiari S, Kruer MC, Philipps G, Asadollahi M, Keramatipour M, Blanc X, Ranza E; Undiagnosed Diseases Network (UDN); Korff CM, Innis JW, Cooper GM, Antonarakis SE.
Latner DR, et al. Among authors: asadollahi m.
Am J Med Genet A. 2026 Jul 15. doi: 10.1002/ajmg.a.70241. Online ahead of print.
Am J Med Genet A. 2026.
PMID: 42458923