Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.R735*
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LEMD3

NM_014319.5:p.R735*

Associated Papers

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

Ossifying fibroma in Buschke-Ollendorff syndrome.

Dawson AL et al.

Journal of Cutaneous Pathology, 2014

Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome.

Natsuga K et al.

The British Journal of Dermatology, 2012

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S et al.

Bmc Medical Genetics, 2010

Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

Yuste-Chaves M et al.

Pediatric Dermatology, 0

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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."