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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RECQL

Variant:p.H548Y

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RECQL

NM_002907.4:p.H548Y

hg38:chr12:21471453 G>A

Associated Papers

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

de Voer RM et al.

Scientific Reports, 2015

26358404 (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."