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: 1960C>T

PubMed Link: 33742773

Variant Present in the following documents:

• Main text
• JDI-12-1919.pdf

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: PI3K: 1960C>T; L654L

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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