Varaico: Literature-Extracted Genetic Variants

Gene:LAMA3
Variant:p.K1310*
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LAMA3

NM_000227.6:p.K1310*

Associated Papers

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R et al.

Frontiers of Medicine, 2022

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.

Yuen WY et al.

The British Journal of Dermatology, 2011

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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."