Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability

Author:

Zhi Xiufang,Pu Linjie,Wu Bo,Cui Yaqiong,Yu Changshun,Dong Yan,Li Dong,Cai Chunquan

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference36 articles.

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3. E. Rubinato, S. Rondeau, F. Giuliano, M. Kossorotoff, M. Parodi, S. Gherbi et al., MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. Eur. J. Med. Genet 63(3)(2020)103768. https://10.1016/j.ejmg.2019.103768.

4. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders;Charzewska;Clin. Genet.,2018

5. M.J. Lyons, MED12-Related Disorders(1993).Lyons MJ, MED12-Related Disorders. Jun 23, 2008[updated Aug 12, 2021], In: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K.W. Gripp, G.M. Mirzaa, A. Amemiya (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.

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