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2022年12月24日 · NM_000228.2 (LAMB3):c.385delG (A129Pfs*4) is expected to be pathogenic in the context of junctional epidermolysis bullosa, LAMB3-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LAMB3, a gene where loss-of-function variants are known to be pathogenic.

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Peripheral nerve injuries may lead to a significant function loss, which deeply affect patient’s quality of life. In this context, tissue engineered collagen-based nerve guides are a promising alternative to autografts.

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