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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC5

Variant:p.Q231del1

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ERCC5

NM_000123.4:p.Q231del1

hg38:chr13:102861524 ACAG>A

Associated Papers

Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.

Schäfer A et al.

The Journal of Investigative Dermatology, 2013

23370536 (PubMed )

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