Publications:

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Genome Research

Enikanolaiye, Adebola A; Ruston, Julie J; Zeng, Rong R; Taylor, Christine C; Schrock, Marijke M; Buchovecky, Christie M CM; Shendure, Jay J; Acar, Elif E; Justice, Monica J MJ

Publication Date: 2020-04

Variant appearance in text: EGF: 697T>C; Y233H

PubMed Link: 32317254

Variant Present in the following documents:

• 540.pdf

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Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

Cns Neuroscience & Therapeutics

Chen, Sheng S; Ni, Wang W; Yin, Xin-Zhen XZ; Liu, Han-Qiu HQ; Lu, Cong C; Zheng, Qiao-Juan QJ; Zhao, Gui-Xian GX; Xu, Yong-Feng YF; Wu, Lei L; Zhang, Liang L; Wang, Ning N; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2017-09

Variant appearance in text: EGF: 697T>C

PubMed Link: 28710804

Variant Present in the following documents:

• Main text

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