Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1B
Variant:p.A482V
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ACVR1B

NM_004302.5:p.A482V

Associated Papers

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G et al.

Human Mutation, 2004

Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors.

D'Abronzo FH et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."