Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R678*
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LEMD3

NM_014319.5:p.R678*

Associated Papers

Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.

Xu Z et al.

Journal of Cutaneous Pathology, 2021

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Gnoli M et al.

Calcified Tissue International, 2019

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.

Korman B et al.

Case Reports in Dermatological Medicine, 2016

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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."