Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R655*
Back to variants list

LEMD3

NM_014319.5:p.R655*

Associated Papers

The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.

Borah S et al.

Frontiers in Cell and Developmental Biology, 2022

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.

Zhang Y et al.

Clinical Genetics, 2009

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

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.

Hershkovitz D et al.

The British Journal of Dermatology, 2007

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J et al.

Human Mutation, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."