Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.I332_A333insTC
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ACVR1

NM_001111067.4:p.I332_A333insTC

Associated Papers

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

Mumm S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007

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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."