Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q10insFs
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PLEC

NM_201384.3:p.Q10insFs

Associated Papers

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."