Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.P786S
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COL17A1

NM_000494.4:p.P786S

Associated Papers

A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain.

Pasmooij AM et al.

Experimental Dermatology, 2004

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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."