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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.K330_G331Splc

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COL4A5

NM_033380.3:p.K330_G331Splc

hg38:chrX:108582938 G>T

Associated Papers

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Horinouchi T et al.

Journal of the American Society of Nephrology : Jasn, 2018

29959198 (PubMed )

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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."