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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC6

Variant:p.E432fs

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ERCC6

NM_000124.4:p.E432fs

hg38:chr10:49524136 TTC>N

Associated Papers

Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.

Xin B et al.

Molecular Syndromology, 2013

23599700 (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."