Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.T154_S155insFs
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LAMB3

NM_000228.3:p.T154_S155insFs

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

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

Pfendner EG et al.

Prenatal Diagnosis, 2003

Laminins and human disease.

McGowan KA et al.

Microscopy Research and Technique, 2000

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."