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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCDH15

Variant:p.N141_S144insFs

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PCDH15

NM_001384140.1:p.N141_S144insFs

hg38:chr10:54369163 G>GAGTTGTCA

Associated Papers

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.

Le Guédard S et al.

Molecular Vision, 2007

17277737 (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."