Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.T239fs
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COL17A1

NM_000494.4:p.T239fs

Associated Papers

LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Kim JW et al.

Journal of Dental Research, 2013

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.

Murrell DF et al.

The Journal of Investigative Dermatology, 2007

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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."