Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.K109insFs
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COL5A1

NM_000093.5:p.K109insFs

Associated Papers

Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.

Uitto J et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2002

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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."