Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.L948fs
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COL4A5

NM_033380.3:p.L948fs

Associated Papers

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Zhang X et al.

Orphanet Journal of Rare Diseases, 2018

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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."