Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
Chen Y, Yang B, Zhang XM, Chen S, Wang M, Hu L, Pan N, Li S, Shi W, Yang Z, Wang L, Tan Y, Wang J, Wang Y, Xing Q, Ma Z, Li J, Huang HF, Zhang J, Xu C.
Chen Y, et al. Among authors: hu l.
Protein Cell. 2024 Jan 3;15(1):52-68. doi: 10.1093/procel/pwad034.
Protein Cell. 2024.
PMID: 37294900
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