Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G322D
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ACVRL1

NM_000020.3:p.G322D

Associated Papers

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N et al.

Blood, 2010

Complementation between kinase-defective and activation-defective TGF-beta receptors reveals a novel form of receptor cooperativity essential for signaling.

Weis-Garcia F et al.

The Embo Journal, 1996

Serine/threonine kinase receptors: mediators of transforming growth factor beta family signals.

Massagué J et al.

Cancer Surveys, 1996

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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."