Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.R659Splc
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LAMB3

NM_000228.3:p.R659Splc

Associated Papers

Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Takizawa Y et al.

The Journal of Investigative Dermatology, 1998

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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."