Publications:

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.

Journal Of Diabetes Investigation

Yin, Xiaofei X; Liu, Jidong J; Feng, Ruiying R; Xu, Mingyue M; Liu, Jinbo J

Publication Date: 2021-10

Variant appearance in text: PI3K: 1615_1617del

PubMed Link: 33742773

Variant Present in the following documents:

• Main text
• JDI-12-1919.pdf

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: PIK3CA: 1614_1616delTCC; P539del

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5

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