Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.H286D
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ACVR1

NM_001111067.4:p.H286D

Associated Papers

Human Genetics of Atrioventricular Septal Defect.

Maslen CL

Advances in Experimental Medicine and Biology, 2024

Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva.

Khan F et al.

Biomedicines, 2021

New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease.

Venegas-Zamora L et al.

Frontiers in Genetics, 2021

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

Joziasse IC et al.

European Journal of Human Genetics : Ejhg, 2011

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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."