Varaico: Literature-Extracted Genetic Variants

Gene:COL27A1
Variant:p.G802E
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COL27A1

NM_032888.4:p.G802E

Associated Papers

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.

Evie Kritioti et al.

European Journal of Medical Genetics, 2020

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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."