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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC3

Variant:p.L722L

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ERCC3

NM_000122.2:p.L722L

hg38:chr2:127259349 G>A

Associated Papers

A Japanese trichothiodystrophy patient with XPD mutations.

Usuda T et al.

Journal of Human Genetics, 2011

20944642 (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."