Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.E649E
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COL5A2

NM_000393.5:p.E649E

Associated Papers

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M et al.

Orphanet Journal of Rare Diseases, 2013

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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."