Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.G345Fs
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LEMD3

NM_014319.5:p.G345Fs

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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