Publications:

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Molecular Autism

Yeung, Kit San KS; Tso, Winnie Wan Yee WWY; Ip, Janice Jing Kun JJK; Mak, Christopher Chun Yu CCY; Leung, Gordon Ka Chun GKC; Tsang, Mandy Ho Yin MHY; Ying, Dingge D; Pei, Steven Lim Cho SLC; Lee, So Lun SL; Yang, Wanling W; Chung, Brian Hon-Yin BH

Publication Date: 2017

Variant appearance in text: PTEN: Ser170Thr

PubMed Link: 29296277

Variant Present in the following documents:

• Main text
• 13229_2017_Article_182.pdf
• 13229_2017_182_MOESM1_ESM.xlsx, sheet 1

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The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia

Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH

Publication Date: 2009-08

Variant appearance in text: PTEN: S170T

PubMed Link: 19340001

Variant Present in the following documents:

• Main text
• nihms98506.pdf

View BVdb publication page