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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.P934_G935insFs

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COL4A5

NM_033380.3:p.P934_G935insFs

hg38:chrX:108622709 C>CT

Associated Papers

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Hertz JM et al.

Clinical Genetics, 2008

18616531 (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."