Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: C105A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II.

Experimental & Molecular Medicine

Zhao, Shanshan S; Li, Zhenghui Z; Zhang, Muxian M; Zhang, Lingliang L; Zheng, Honghua H; Ning, Jinhuan J; Wang, Yanyan Y; Wang, Fengpeng F; Zhang, Xiaobin X; Gan, Hexia H; Wang, Yuanqing Y; Zhang, Xian X; Luo, Hong H; Bu, Guojun G; Xu, Huaxi H; Yao, Yi Y; Zhang, Yun-Wu YW

Publication Date: 2019-07-23

Variant appearance in text: PTEN: C105A

PubMed Link: 31337748

Variant Present in the following documents:

• Main text
• 12276_2019_Article_277.pdf

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NO signaling and S-nitrosylation regulate PTEN inhibition in neurodegeneration.

Molecular Neurodegeneration

Kwak, Young-Don YD; Ma, Tao T; Diao, Shiyong S; Zhang, Xue X; Chen, Yaomin Y; Hsu, Janet J; Lipton, Stuart A SA; Masliah, Eliezer E; Xu, Huaxi H; Liao, Francesca-Fang FF

Publication Date: 2010-11-10

Variant appearance in text: PTEN: C105A

PubMed Link: 21067594

Variant Present in the following documents:

• Main text
• 1750-1326-5-49.pdf

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