Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.G543_P544insFs
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LAMB3

NM_000228.3:p.G543_P544insFs

Associated Papers

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

Hammersen J et al.

The Journal of Investigative Dermatology, 2016

Herlitz junctional epidermolysis bullosa.

Laimer M et al.

Dermatologic Clinics, 2010

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

Mühle C et al.

Human Genetics, 2005

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

Pfendner EG et al.

Prenatal Diagnosis, 2003

Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.

Hauschild R et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2001

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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."