Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.L506_A509delFs
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COL5A1

NM_000093.5:p.L506_A509delFs

Associated Papers

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EMM et al.

American Journal of Human Genetics, 2011

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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."