Publications:

Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.

Sage Open Medical Case Reports

Ma, Jian-Xun JX; Xia, You-Chen YC; Zou, Li-Ping LP; Lin, Heng-Ju HJ; Chang, Xu X; Liu, Li-Ying LY; Toledo, Joy Roechelle A JRA

Publication Date: 2022

Variant appearance in text: TEK: Thr1106Pro

PubMed Link: 35573101

Variant Present in the following documents:

• Main text
• 10.1177_2050313X221097755.pdf

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: Thr1106Pro

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: Thr1106Pro

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

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Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics

Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L

Publication Date: 2015-11-15

Variant appearance in text: TIE2: T1106P

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology

Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M

Publication Date: 2013-04

Variant appearance in text: TIE2: 3316A>C

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

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