Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.I867insFs
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COL4A5

NM_033380.3:p.I867insFs

Associated Papers

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism.

Lee SJ et al.

Annals of Pediatric Endocrinology & Metabolism, 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."