Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.V648delFs
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LAMB3

NM_000228.3:p.V648delFs

Associated Papers

Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.

Tan EC et al.

The Australasian Journal of Dermatology, 2022

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.

Mizrachi-Koren M et al.

Journal of the American Academy of Dermatology, 2006

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

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

Nakano A et al.

Journal of the American Academy of Dermatology, 2002

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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."