Varaico: Literature-Extracted Genetic Variants

Gene:LAMC2
Variant:p.R154_C155insFs
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LAMC2

NM_005562.3:p.R154_C155insFs

Associated Papers

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

Laminins and human disease.

McGowan KA et al.

Microscopy Research and Technique, 2000

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Christiano AM et al.

Prenatal Diagnosis, 1997

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

Kivirikko S et al.

Human Molecular Genetics, 1996

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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."