Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.S657insFs
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LAMB3

NM_000228.3:p.S657insFs

Associated Papers

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

Savostyanov K et al.

International Journal of Molecular Sciences, 2022

Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa.

Medek K et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

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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."