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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A5

Variant:p.P1175_P1177insFs

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COL4A5

NM_033380.3:p.P1175_P1177insFs

hg38:chrX:108666564 C>CCTGGA

Associated Papers

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R et al.

Bmc Medical Genomics, 2018

29986705 (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."