Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.T587delFs
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LAMB3

NM_000228.3:p.T587delFs

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

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.

Vailly J et al.

The Journal of Investigative Dermatology, 1995

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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."