Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.E119Splc
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TGFB1

NM_000660.7:p.E119Splc

Associated Papers

Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Przybyła W et al.

Plos One, 2022

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Mizuguchi T et al.

Journal of Human Genetics, 2007

[Genetic testing for Marfan syndrome].

Mizuguchi T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005

Molecular genetics of Marfan syndrome.

Boileau C et al.

Current Opinion in Cardiology, 2005

Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.

Milewicz DM

Current Opinion in Cardiology, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."