Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.R659Splc
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LAMB3

NM_000228.3:p.R659Splc

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

Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.

Takizawa Y et al.

The Journal of Investigative Dermatology, 2000

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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."