Publications:

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: ACVRL1: 1321G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.

Angiogenesis

Bocci, Matteo M; Sjölund, Jonas J; Kurzejamska, Ewa E; Lindgren, David D; Marzouka, Nour-Al-Dain NA; Bartoschek, Michael M; Höglund, Mattias M; Pietras, Kristian K

Publication Date: 2019-02

Variant appearance in text: ACVRL1: V441M

PubMed Link: 30132150

Variant Present in the following documents:

• 10456_2018_9642_MOESM2_ESM.xlsx, sheet 1

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Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Plos One

Alaa El Din, Ferdos F; Patri, Sylvie S; Thoreau, Vincent V; Rodriguez-Ballesteros, Montserrat M; Hamade, Eva E; Bailly, Sabine S; Gilbert-Dussardier, Brigitte B; Abou Merhi, Raghida R; Kitzis, Alain A

Publication Date: 2015

Variant appearance in text: HHT: Val441Met

PubMed Link: 26176610

Variant Present in the following documents:

• Main text

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[Gene analysis in a family of hereditary hemorrhagic telangiectasia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Yuan, Dong D; Yin, Xiaohua X; Dai, Yuhong Y; Li, Bing B; Liang, Keji K; Wei, Guangyi G

Publication Date: 2015-02

Variant appearance in text: HHT: 1321G>A

PubMed Link: 25778885

Variant Present in the following documents:

• Main text
• cjh-36-02-112.pdf

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ACVRL1: V441M

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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