Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.G1338D
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COL17A1

NM_000494.4:p.G1338D

Associated Papers

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Schumann H et al.

American Journal of Human Genetics, 1997

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

Gatalica B et al.

American Journal of Human Genetics, 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."