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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC2

Variant:p.E731fs

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ERCC2

NM_000400.4:p.E731fs

hg38:chr19:45351719 C>CN

Associated Papers

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.

Chen JD et al.

Bmc Pediatrics, 2021

33711971 (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."