Varaico: Literature-Extracted Genetic Variants

Gene:LAMA3
Variant:p.R10insFs
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LAMA3

NM_198129.4:p.R10insFs

Associated Papers

Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.

De Rosa L et al.

Frontiers in Genetics, 2021

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A et al.

Human Genetics, 2002

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

Mellerio JE et al.

The British Journal of Dermatology, 1998

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

Pulkkinen L et al.

The Journal of Investigative Dermatology, 1997

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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."