Varaico: Literature-Extracted Genetic Variants

Gene:COL27A1
Variant:p.G895R
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COL27A1

NM_032888.4:p.G895R

Associated Papers

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

Gonzaga-Jauregui C et al.

European Journal of Human Genetics : Ejhg, 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."